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Test # Test Name Additional Information Specialty Test Keywords
5 Fluorouracil Sensitivity
2012166  Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations 5-Fluorouracil Sensitivity DYPD 5-Fluorouracil toxicity 5-FU toxicity 5-FU toxicity 5FU toxicity Adrucil (DPYD) Genotyping, 3 Mutations Xeloda (capecitabine) (DPYD) Genotyping, 3 Mutations DPD Uftoral (tegafur/uracil) (DPYD) Genotyping, 3 Mutations
Achondroplasia
0051266  Achondroplasia (FGFR3) 2 Mutations
0051265 Achondroplasia Mutation, Fetal   Achondroplasia AD PCR FE, Skeletal Dysplasias
Acylcarnitine
0081110 Carnitine Panel   Acylcarnitine CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine
Acylglycine
0040033 Acylcarnitine Quantitative Profile, Plasma   Acylcarnitine ACYLCARN 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
0081170 Acylglycine, Quantitative, Urine   Acylglycine ACYLGLY MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS
Alpha Fetoprotein, Aminotic Fluid
3000142 Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin   Alpha Fetoprotein, Amniotic Fluid AF AFP, Prenatal Screening and Diagnosis
Alpha Thalassemia
2011622 Alpha Globin (HBA1 and HBA2) Deletion/Duplication Alpha Thalassemia HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Alpha Thalassemia ALPHA THAL, Hemoglobinopathies
2011708 Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Alpha Thalassemia AG FGA,
Alpha-1-Antitrypsin
0051256 Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype Alpha-1-Antitrypsin A1A GENO, AAT
Alport Syndrome
2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication Alport Syndrome ALPORT FGA Renal disease, chronic kidney disease, hematuria
0051786 Alport Syndrome, X-linked (COL4A5) Sequencing   Alport Syndrome ALPORT FGS Renal disease, chronic kidney disease, hematuria
Alzheimer's Disease
2013341 Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Alzheimer's Disease APOE AZ
Amoino Acids
2009389 Amino Acids Quantitative by LC-MS/MS, Plasma   Amino Acids AA QNT Amino Adipic Aciduria Aminoadipicaciduria Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Citrullinemia Type II Adult-Onset Type II Citrullinemia CTLN2 SLC25A13 Calcium-binding mitochondrial carrier protein Aralar2 Citrin Deficiency Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Histidinemia HAL Deficiency Histidase Deficiency HAL Histidine ammonia-lyase Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase Hydroxyprolinemia hydroxyproline Hyper-Beta-Alaninemia Hyperalaninemia alanine Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Isolated Persistent Hypermethioninemia Methionine Adenosyltransferase Deficiency MAT1A S-adenosylmethionine synthetase isoform type-1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Maple Syrup Urine Disease BCKD Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Maple Syrup Disease MSUD Maple Syrup Urine Disease Type 1A Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Ornithine Aminotransferase Deficiency Hyperornithinemia with Gyrate Atrophy of Choroid and Retina OAT Ornithine aminotransferase, mitochondrial Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Phenylalanine Hydroxylase Deficiency PAH Deficiency Hyperphenylalaninemia Phenylketonuria Variant PKU PAH Phenylalanine-4-hydroxylase PKU Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase
2009419 Amino Acids Quantitative by LC-MS/MS, Urine   Amino Acids UAA QNT Amino Adipic Aciduria Aminoadipicaciduria CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Hydroxyprolinemia
0080137 Amino Acids Quantitative, CSF   Amino Acids CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial
Angelman Syndrome
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Angelman Syndrome AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
2005564 Angelman Syndrome (UBE3A) Sequencing   Angelman Syndrome UBE3A FGS
2012232 Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal   Angelman Syndrome AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS
2002299 Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13)   Angelman Syndrome AS; D15S10
Aortopathies
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Aortopathies FBN1 FGA
2005589 Marfan Syndrome (FBN1) Sequencing   Aortopathies FBN1 FGS
2006540 Aortopathy Panel, Sequencing and Deletion/Duplication Aortopathies AORT PANEL, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
2002705 TGFBR1 & TGFBR2 Sequencing Aortopathies LDS FGS, Loeys-Dietz, aortic aneurysm
  —see Loeys-Dietz Syndrome   Aortopathies  
  —see Marfan Syndrome and FBN1-Related Disorders   Aortopathies  
Apolipoprotein B (APOB)
0055654 Apolipoprotein B Mutation Detection (G9775A, C9774T) Apolipoprotein B (APOB) APO B, Risk Markers - CVD (Non-traditional)
Apolipoprotein E (APOE)
2013341 Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Apolipoprotein E (APOE) APOE AZ
2013337 Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk   Apolipoprotein E (APOE) APOE CR
Ashkenazi Jewish Panel (16 disorders)
0051415 Ashkenazi Jewish Diseases, 16 Genes Ashkenazi Jewish Panel (16 disorders) AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15
2013725 ABCC8-Related Hyperinsulinism, 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders)  
2013745 NEB-Related Nemaline Myopathy, 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders)  
0051433 Bloom Syndrome (BLM),1 Variant Ashkenazi Jewish Panel (16 disorders) BLM, Jewish Genetic
0051453 Canavan Disease (ASPA), 4 Variants Ashkenazi Jewish Panel (16 disorders) ASPA, Jewish Genetic
0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Ashkenazi Jewish Panel (16 disorders) IKBKAP, Jewish Genetic Disease
0051468 Fanconi Anemia Group C, (FANCC), 2 Variants Ashkenazi Jewish Panel (16 disorders) FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
2013740 Glycogen Storage Disease, Type 1A (G6PC), 9 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders)  
2013909 Joubert Syndrome Type 2 (TMEM216), 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders)  
2013735 Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders)  
2013730 Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders)  
0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Ashkenazi Jewish Panel (16 disorders) MCOLN1, Jewish Genetic, lysosomal
0051458 Niemann-Pick, Type A (SMPD1), 4 Variants Ashkenazi Jewish Panel (16 disorders) SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
0051428 Tay-Sachs Disease (HEXA), 7 Variants Ashkenazi Jewish Panel (16 disorders) HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W
2013750 Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders)  
0051438 Gaucher Disease (GBA), 8 Variants   Ashkenazi Jewish Panel (16 disorders) GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
Autism
2014314 Autism and Intellectual Disability Comprehensive Panel Autism Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray
2003414 Cytogenomic SNP Microarray Autism CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID
2006267 Cytogenomic SNP Microarray Buccal Swab Autism CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab, intellectual disability, developmental disability, IDD, ID
2014312 Autism and Intellectual Disability Metabolic Panel Autism Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, SLC6A8, microarray
2009353 Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood Autism SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
0051614 Rett Syndrome (MECP2), Full Gene Analysis Autism RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Autism PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication Autism CDKL5 FGA, X-linked infantile spasm
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Autism AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
2005564 Angelman Syndrome (UBE3A) Sequencing   Autism UBE3A FGS
Beckwith-Wiedemann
3001635 Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA Beckwith-Wiedemann  
Beta Globin
0050388 Beta Globin (HBB) Sequencing, Fetal Beta Globin BG SEQ FE
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Beta Globin BG FGA, Beta thalassemia, beta globin, HBB
2010113 Beta Globin (HBB) Deletion/Duplication Beta Globin BG DD, Beta thalassemia, beta globin, HBB
Biotinidase
0093362 Biotinidase, Serum (with paired normal control) Biotinidase BTD ENZ Biotinidase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Late-Onset Multiple Carboxylase Deficiency BTD Biotinidase Biotinidase enzyme
Biotinidase Deficiency
0051730 Biotinidase Deficiency (BTD) Sequencing Biotinidase Deficiency BTD FGS, Multiple carboxylase
Blood Genotyping
0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Blood Genotyping RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
3002002 RhC/c (RHCE) Antigen Genotyping Blood Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002003 RhE/e (RHCE) Antigen Genotyping Blood Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002001 Kell K/k Antigen (KEL) Genotyping Blood Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
3001053 Red Blood Cell Antigen Genotyping Blood Genotyping colton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna
Bloom Syndrome
0051433 Bloom Syndrome (BLM),1 Variant Bloom Syndrome BLM, Jewish Genetic
BRAF
2002498 BRAF codon 600 Mutation Detection by Pyrosequencing BRAF Melanoma, Colorectal cancer, Lynch Syndrome, HNPCC, Hereditary Nonpolyposis Colorectal Cancer, Gastrointestinal Adenocarcinoma, Papillary thyroid carcinoma
2013921 BRAF V600E Mutation Detection in Circulating Cell-Free DNA by Digital Droplet PCR BRAF  
Breast Cancer
2012026 Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication Breast Cancer BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication Breast Cancer BRCA FGA, BRACA, HBOC
2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing Breast Cancer BRCA FGS, BRACA, HBOC
2002722 PTEN-Related Disorders Sequencing   Breast Cancer PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Breast Cancer PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Breast Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Breast Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Breast Cancer STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing   Breast Cancer STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation
CADASIL
3000531 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL CADASIL opathy, NOTCH3, notch3
Canvas Disease
0051453 Canavan Disease (ASPA), 4 Variants Canavan Disease ASPA, Jewish Genetic
Cancer, Hereditary
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Cancer, Hereditary CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
Capillary Malformation-Arteriovenous Malformation
3001132 Capillary Malformation-Arteriovenous Malformation (EPHB4 and RASA1) Sequencing and (RASA1) Deletion/Duplication Capillary Malformation-Arteriovenous Malformation  
3001129 Capillary Malformation-Arteriovenous Malformation 2 (EPHB4) Sequencing Capillary Malformation-Arteriovenous Malformation  
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication Capillary Malformation-Arteriovenous Malformation RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2002730 RASA1-Related Disorders (RASA1) Sequencing Capillary Malformation-Arteriovenous Malformation RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
Cardiomyopathy
2010183 Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Cardiomyopathy CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS)
Carnitine
0081110 Carnitine Panel   Carnitine CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine
0080068 Carnitine, Free and Total, Plasma   Carnitine OCTN2 CARN F&T Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5
0081308 Carnitine, Free and Total, Urine   Carnitine OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5
0080065 Carnitine, Free, Plasma   Carnitine CARN
0080067 Carnitine, Total, Plasma   Carnitine CARN TOTAL
Carnitine Deficiency
2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication Carnitine Deficiency PCD FGA, OCTN2, carnitine uptake
0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing   Carnitine Deficiency PCD FGS, OCTN2, carnitine uptake
Career Screening Panels
0051415 Ashkenazi Jewish Diseases, 16 Genes Carrier Screening Panels AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15
3000258 Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation   Carrier Screening Panels CF FX SMA
2014680 Expanded Carrier Screen by Next Generation Sequencing Carrier Screening Panels ECS SEQ
2014677 Expanded Carrier Screen by Next Generation Sequencing with Fragile X Carrier Screening Panels ECS SEQ FX
CDKL5-Related Disorders
2004931 CDKL5-Related Disorders (CDKL5) Sequencing Additional Technical Information CDKL5-Related Disorders CDKL5 FGS, X-linked infantile spasm
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders CDKL5 FGA, X-linked infantile spasm
Celiac Disease
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as:
• Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals
• Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD		 Celiac Disease HLA CELIAC
Central Nervous System Cancer
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Central Nervous System Cancer VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing   Central Nervous System Cancer VHL FGS, Congenital polycythemia
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Central Nervous System Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Central Nervous System Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Central Nervous System Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
Charcot-Marie-Tooth Disease
2012160 Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication Charcot-Marie-Tooth Disease CMT DD, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS
2012155 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ Duplication with Reflex to Sequencing Panel   Charcot-Marie-Tooth Disease CMT REFLEX, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS
2012151 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing   Charcot-Marie-Tooth Disease CMT SEQ, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS
CHARGE Syndrome
2012609 CHARGE Syndrome, CHD7 Sequencing CHARGE Syndrome  
2012717 CHARGE Syndrome (CHD7) Sequencing, Fetal   CHARGE Syndrome  
Chimerism
2002065 Chimerism, Recipient Pre-Transplant Chimerism STR-PRE
2002067 Chimerism, Donor   Chimerism STR-DONOR
2002064 Chimerism, Post-Transplant, Sorted Cells   Chimerism STR-POSTSC
2002066 Chimerism, Post-Transplant   Chimerism STR-POST
Chronic Granulomatous Disease
3000544 Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) Chronic Granulomatous Disease CGD PAN, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
3000541 Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing   Chronic Granulomatous Disease CYBB FGS , Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006366 Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion   Chronic Granulomatous Disease NCF1, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
Citrin Deficiency
2006261 Citrin Deficiency (SLC25A13) Sequencing Citrin Deficiency CITRIN FGS Citrin Deficiency Citrullinemia Type II Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
Citrullinemia, Type I
2007069 Citrullinemia, Type I (ASS1) Sequencing Citrullinemia, Type I  
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders
2011157 Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Cobalamin/Propionate/Homocysteine Metabolism Related Disorders VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2 Methylmalonic aciduria and homocystinuria, cblJ type Combined malonic and methylmalonic aciduria Megaloblastic anemia-1, Norwegian type Homocystinuria due to cystathionine beta-synthase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Megaloblastic anemia-1, Finnish type Intrinsic factor deficiency Methylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF type Methionine adenosyltransferase deficiency Methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity Homocystinuria-megaloblastic anemia, cblG type Homocystinuria-megaloblastic anemia, cbl E type Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Propionic acidemia Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Transcobalamin I deficiency Transcobalamin II deficiency
Constitutional Chromosome Studies
2002289 Chromosome Analysis, Peripheral Blood Constitutional Chromosome Studies CHR PB, karyotype, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility
2002287 Chromosome Analysis, Rule Out Mosaicism Constitutional Chromosome Studies CHR R/OM, Turner, Turners, Turner's, 45X, 45,X, mosaic, Down, Downs, Down's, trisomy 21, T21, karyotype
2005763 Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray Constitutional Chromosome Studies PB REFLEX, SNP CHR PB, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, congenital anomalies, MCA, birth defects, autism, PDD, pervasive, ASD, intellectual disability, developmental disability, IDD, ID
2009353 Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood Constitutional Chromosome Studies SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
2002293 Chromosome Analysis, Amniotic Fluid Constitutional Chromosome Studies CHR AF, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2008367 Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray Constitutional Chromosome Studies AF REFLEX, 45,X, 45X, AF, ambiguous genitalia, amnio, cardiac defect, cystic hygroma, Down syndrome, Down’s syndrome, Downs syndrome, Edward’s, Edwards, heart defect, Increased NT, inversion, karyotype, karyotypes, Kleinfelter, Klienfelters, Klinefelter’s, MCA, monosomy, multiple congenital abnormalities, multiple congenital anomalies, NT, nuchal translucency, Pateau, prenatal, sex chromosome, T13, T18, T21, translocation, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Turner’s syndrome, Turners syndrome, XO, XXY, XYY Array CGH (Microarray Genomic, Fetal), Comparative Genomic Hybridization (Microarray Genomic, Fetal), Microarray (Microarray Genomic, Fetal), Oligo Array (Microarray Genomic, Fetal)
2011130 Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray Constitutional Chromosome Studies AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2002291 Chromosome Analysis, Chorionic Villus Sampling (CVS) Constitutional Chromosome Studies CHR CVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, villi, placenta
2011131 Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray Constitutional Chromosome Studies CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2002288 Chromosome Analysis, Products of Conception Constitutional Chromosome Studies CHR POC, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss
2005762 Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray Constitutional Chromosome Studies POC REFLEX, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss
2002286 Chromosome Analysis, Skin Biopsy Constitutional Chromosome Studies CHR SKIN, tissue, karyotype, mosaic, mosaicism
0097688 Chromosome Analysis—Breakage, Fanconi Anemia Constitutional Chromosome Studies BREAKAGE, Fanconi anemia, Fanconi’s, Fanconis, diagnostic
Creatine
2008610 Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication Creatine SLC6A8 FGA, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency
2008615 Creatine Transporter Deficiency (SLC6A8) Sequencing Additional Technical Information Creatine SLC6A8 FGS, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency
2011140 Guanidinoacetate Methyltransferase (GAMT) Deficiency Sequencing Creatine GAMT FGS, GAA, creatine, creatine deficiency, guanidinoacetate N-methyltransferase, GAMT deficiency
2011144 Arginine:Glycine Amidinotransferase (GATM) Deficiency Sequencing Creatine AGAT FGS, AGAT, l-arginine:glycine, creatine, creatine deficiency , AGAT deficiency
2002328 Creatine Disorders Panel, Plasma or Serum Additional Technical Information Creatine GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS P Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1
2002333 Creatine Disorders Panel, Urine Additional Technical Information Creatine GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS U Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1
Cystic Fibrosis
0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis CF-CFTR, Diagnostic, CF
0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis CFTR FGA, Diagnostic, CF
2013661 Cystic Fibrosis (CFTR), 165 Pathogenic Variants   Cystic Fibrosis CF VAR
2013662 Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal   Cystic Fibrosis CF VAR FE
2013663 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing   Cystic Fibrosis CF VAR SEQ
2013664 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication   Cystic Fibrosis CFVAR COMP
Cystine
0081105 Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine   Cystine CYS PAN CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1
0081106 Cystine Quantitative, Urine   Cystine QNT CYS U CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1
Cytochrome P450
3001524 Cytochrome P450 Genotyping Panel (includes variants covered in the 2C19GENO, 2C8/2C9, 2D6GENO, 3A4/3A5) Cytochrome P450 CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5
3001508 CYP2C19 Cytochrome P450 clopidogrel (Plavix), antidepressants, voriconazole, protein pump inhibitors (PPIs), omeprazole
3001501 CYP2C8 and CYP2C9 Cytochrome P450 warfarin, Coumadin, phenytoin, sulfonylureas, glimepiride, gliclazide, glibenclamide, tolbutamide
3001513 CYP2D6 Cytochrome P450 antidepressants, antipscyhotics, atomoxetine, tramadol, codeine, oxycodone, tamoxifen, zuclopenthixol, tropisetron, felcainide, metoprolol, propafenone
3001518 CYP3A4 and CYP3A5 Cytochrome P450 tacrolimus
Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form)
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form EDS Kyphoscoliotic Form EDS Type VI EDS VI Ehlers-Danlos Syndrome Type VI Lysyl-Hydroxylase Deficiency Ehlers-Danlos Syndrome Type VIA Nevo Syndrome PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 EDSVI EDS6 EDS 6
2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI FGA
Endocrine Cancer
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Endocrine Cancer MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing   Endocrine Cancer MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Endocrine Cancer MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Endocrine Cancer VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing   Endocrine Cancer VHL FGS, Congenital polycythemia
2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel Endocrine Cancer  
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Endocrine Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2006948 SDHB with Interpretation by Immunohistochemistry   Endocrine Cancer  
2011461 Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing Additional Technical Information Endocrine Cancer SDHA FGS
2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer  
2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer  
2002722 PTEN-Related Disorders Sequencing   Endocrine Cancer PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer  
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Endocrine Cancer PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Endocrine Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Endocrine Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
Epilepsy
2007545 Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy CHILD EPIL, Early-onset epileptic encephalopathy, SCN1A, Sodium channel protein type 1 alpha, PCDH19, Protocadherin-19, SLC2A1, Solute carrier family 2, facilitated glucose transporter member 1, POLG, DNA polymerase subunit gamma-1, SCN2A, Sodium channel protein type 2 alpha, Generalized epilepsy with febrile seizures plus, GEFS+, SCN1A, Sodium channel protein type 1 alpha, SCN1B, Sodium channel subunit beta-1, GABRG2, Gamma-aminobutyric acid receptor subunit gamma-2, SCN2A, Sodium channel protein type 2 alpha, Juvenile Myoclonic Epilepsy, JME, EFHC1, EF-hand domain-containing protein 1, CACNB4, Voltage-dependent L-type calcium channel subunit beta-4, GABRA1, Gamma-aminobutyric acid receptor subunit alpha-1, Progressive Myoclonic Epilepsy, EPM2A, Laforin, NHLRC1, EPM2B, NHL repeat-containing protein 1, malin, CSTB, Cystatin-B, PRICKLE1, Prickle-like protein 1, Autosomal Dominant Focal Epilepsies, CHRNA4, Neuronal acetylcholine receptor alpha-4, CHRNB2, Neuronal acetylcholine receptor beta-2, CHRNA2, Neuronal acetylcholine receptor alpha-2, LGI1, Leucine-rich glioma-inactivated protein 1, atypical Rett syndromes, MECP2, Methyl CpG binding protein 2, CDKL5, Cyclin-dependent kinase-like 5, FOXG1, Forkhead box protein G1, Angelman, Angelman-like, Pitt-Hopkins, UBE3A, Ubiquitin protein ligase E3A, SLC9A6, Sodium/hydrogen exchanger 6, TCF4, Transcription factor 4, NRXN1, Neurexin-1, CNTNAP2, Contactin-associated protein-like 2, Mowat-Wilson, ZEB2, Zinc finger E-box-binding, homeobox 2, Creatine deficiency, GAMT, Guanidinoacetate N-methyltransferase, GATM, Glycine amidinotransferase, mitochondrial, Neuronal Ceroid Lipofuscinoses, NCL, PPT1, CLN1, Palmitoyl-protein thioesterase 1, TPP1, CLN2,Tripeptidyl-peptidase 1, CLN3, Battenin, CLN5, Ceroid-lipofuscinosis neuronal protein 5, CLN6, Ceroid-lipofuscinosis neuronal protein 6, MFSD8, CLN7, Major facilitator superfamily domain-containing protein 8, CLN8, Ceroid-lipofuscinosis neuronal protein 8, CTSD, CLN10, Cathepsin D, Adenosuccinate lyase deficiency, ADSL, Adenylosuccinate lyase, SYN1, Synapsin-1, Microcephaly with early-onset intractable seizures and developmental delay, MCSZ, PNK, Bifunctional polynucleotide, phosphatase/kinase, seizures, GeneDx
2007535 Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy INFANT EPIL; SCN1A; PCDH19; SLC2A1; POLG; SCN2A; SCN1A; SCN1B; GABRG2; EFHC1; CACNB4; GABRA1; EPM2A; NHLRC1; EPM2B; CSTB; PRICKLE1; CHRNA4; CHRNB2; CHRNA2; LGI1; MECP2; CDKL5; FOXG1; UBE3A; SLC9A6; TCF4; NRXN1; CNTNAP2; ZEB2; GAMT; GATM; PPT1; CLN1; TPP1; CLN2; CLN3; CLN5; CLN6; MFSD8; CLN7; CLN8; CTSD; CLN10; ADSL; SYN1; PNKP; benign familial neonatal seizures; generalized epilepsy with febrile seizures; juvenile myoclonic epilepsy; progressive myoclonic epilepsy; autosomal dominant focal epilepsies; Rett/atypical Rett syndromes; Angelman/Angelman-like/Pitt-Hopkins syndromes; Mowat-Wilson syndrome; creatine deficiency syndromes; neuronal ceroid lipofuscinoses; adenosuccinate lyase deficiency; epilepsy with variable learning and behavioral disorders; microcephaly with early onset intractable seizures and developmental delay", GeneDx
2013352 Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma   Epilepsy  
2013355 Pyridoxine-Dependent Epilepsy Panel, Urine   Epilepsy  
Exome
2006336 Exome Sequencing, Proband   Exome EXOSEQ PRO
2006332 Exome Sequencing, Trio Exome EXOME SEQ
3001457 Exome Reanalysis (Originally Test at ARUP - No Specimen Required) Exome  
Fabry Disease
2003204 Alpha-Galactosidase, Serum   Fabry Disease  
Factor V Leiden
0030192 APC Resistance Profile with Reflex to Factor V Leiden Factor V Leiden APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2001549 Factor V, R2 Mutation Factor V Leiden F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G
Factor XIII (F13A1) V34L Variant
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
Familial Adenomatous Polyposis
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Familial Adenomatous Polyposis FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004863 Familial Adenomatous Polyposis (APC) Sequencing   Familial Adenomatous Polyposis APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing   Familial Adenomatous Polyposis MUTYH, FGS, MYH
Familial Dysautonomia
0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Familial Dysautonomia IKBKAP, Jewish Genetic Disease
Familial Mediterranean Fever (MEFV)
2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) FMF FGS, DNA
Familial Mutation Testing
2001961 Familial Mutation, Targeted Sequencing

The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF

 Familial Mutation Testing SEQ FSM
2001980 Familial Mutation, Targeted Sequencing, Fetal   Familial Mutation Testing SEQ FSM FE, Known mutation, family study, mutation specific testing, carrier detection, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells
Familial Transthyretin Amyloidosis (TTR)
2014035 Familial Transthyretin Amyloidosis (TTR) Additional Technical Information
GeneReviews		 Familial Transthyretin Amyloidosis (TTR)  
Fanconi Anemia Group C
0051468 Fanconi Anemia Group C, (FANCC), 2 Variants Fanconi Anemia Group C FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
Fatty Acids
2013518 Fatty Acids Profile, Essential Serum or Plasma   Fatty Acids FA PRO SP
FISH (Constitutional)—Aneuploidy Panels
0040208 Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood) FISH (Constitutional)—Aneuploidy Panels FISHANEU, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, newborn
0040203 Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS) FISH (Constitutional)—Aneuploidy Panels FISHCVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, CVS
2011130 Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2002297 Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid) FISH (Constitutional)—Aneuploidy Panels CHR FISHP, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, amnio, amniotic fluid, Insight, PN FISH
2011131 Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
FISH (Constitutional)—Aneuploidy Panels with Reflex Testing
2011130 Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels with Reflex Testing AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2011131 Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels with Reflex Testing CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
FISH (Constitutional)—Individual Metaphase Probes
2002299 Chromosome FISH, Metaphase—15q11.2-13 duplication (15q11.2-13) FISH (Constitutional)—Individual Metaphase Probes D15S11, D15S10
2002299 Chromosome FISH, Metaphase—Cri-du-chat (5p-) syndrome (5p15.2)   FISH (Constitutional)—Individual Metaphase Probes D5S23; D5S721
2002299 Chromosome FISH, Metaphase—DiGeorge/Velocardiofacial (VCF) syndrome (22q11.2)   FISH (Constitutional)—Individual Metaphase Probes Tuple-1; Tuple; Hira; VCFS
2002299 Chromosome FISH, Metaphase—Kallmann syndrome (Xp22.3)   FISH (Constitutional)—Individual Metaphase Probes KAL; KAL1
2002299 Chromosome FISH, Metaphase—Miller-Dieker (Lisencephaly) syndrome (17p13.3)   FISH (Constitutional)—Individual Metaphase Probes LIS; LIS1
2002299 Chromosome FISH, Metaphase—Phelan McDermid (22qter) syndrome (22q13.3)   FISH (Constitutional)—Individual Metaphase Probes Shank3; shank; 22qtel
2002299 Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13)   FISH (Constitutional)—Individual Metaphase Probes PWS; D15S10
2002299 Chromosome FISH, Metaphase—SHOX (Xp22.3)   FISH (Constitutional)—Individual Metaphase Probes  
2002299 Chromosome FISH, Metaphase—Smith-Magenis syndrome (17p11.2)   FISH (Constitutional)—Individual Metaphase Probes SHMT1; TOP3; FL11; LLGL1
2002299 Chromosome FISH, Metaphase—SRY/male detection (Yp11.3)   FISH (Constitutional)—Individual Metaphase Probes  
2002299 Chromosome FISH, Metaphase—Steroid sulfatase deficiency (STS) (Xp22.3)   FISH (Constitutional)—Individual Metaphase Probes icthyosis
2002299 Chromosome FISH, Metaphase—Williams (elastin) syndrome (7q11.23)   FISH (Constitutional)—Individual Metaphase Probes ELN; LIMK1; D7S613
2002299 Chromosome FISH, Metaphase—Wolf-Hirschhorn (4p-) syndrome (4p16.3)   FISH (Constitutional)—Individual Metaphase Probes WHSC1
2002299 Chromosome FISH, Metaphase—Yq12   FISH (Constitutional)—Individual Metaphase Probes  
2002299 Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13)   FISH (Constitutional)—Individual Metaphase Probes AS; D15S10
FISH (Constitutional)—Individual Interphase Probes
2002298 Chromosome FISH, Interphase—X centromere   FISH (Constitutional)—Individual Interphase Probes  
2002298 Chromosome FISH, Interphase—Y centromere   FISH (Constitutional)—Individual Interphase Probes  
Fragile X
2009033 Fragile X (FMR1) with Reflex to Methylation Analysis Fragile X FRAG X PCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
2009034 Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal   Fragile X FX PCR FE, known mutation, family study, mutation specific testing, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, X-linked
G6PD Deficiency
2007163 Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing Additional Technical Information G6PD Deficiency G6PD AFRIC, Hemolytic Anemias
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A)   G6PD Deficiency G6PD AFRIC, Hemolytic Anemias
Galactosemia
3001790 Galactose-1-Phosphate Enzyme Activity   Galactosemia G1PUT Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations Galactosemia GALTPAN Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
0051176 Galactosemia, (GALT) 9 Mutations   Galactosemia GALTDNA, Galactosemia
0081296 Galactose-1-Phosphate in Red Blood Cells   Galactosemia GAL1PRBC Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
2006697 GALT (Galactosemia) Sequencing Additional Technical Information Galactosemia GALT FGA, Galactosemia
0051270 Galactosemia, (GALT ) 9 Mutations, Fetal   Galactosemia GALTDNA FE, Galactosemia
Gastrointestinal Cancer
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Gastrointestinal Cancer BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information Gastrointestinal Cancer MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information Gastrointestinal Cancer MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information Gastrointestinal Cancer MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information Gastrointestinal Cancer MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Gastrointestinal Cancer FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004863 Familial Adenomatous Polyposis (APC) Sequencing   Gastrointestinal Cancer APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing   Gastrointestinal Cancer MUTYH, FGS, MYH
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication   Gastrointestinal Cancer BMPR1A FGA, JPS, SMAD4
2004988 Juvenile Polyposis (BMPR1A) Sequencing   Gastrointestinal Cancer BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis
2013449 Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication Gastrointestinal Cancer GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP)
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Gastrointestinal Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Gastrointestinal Cancer MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Gastrointestinal Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Gastrointestinal Cancer SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information Gastrointestinal Cancer HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
2009302 Li-Fraumeni (TP53) Sequencing Gastrointestinal Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
0051510 Juvenile Polyposis (SMAD4) Sequencing   Gastrointestinal Cancer SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Gastrointestinal Cancer STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing   Gastrointestinal Cancer STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation
Gaucher Disease
3001648 Gaucher Disease (GBA) Sequencing Gaucher Disease Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency
0051438 Gaucher Disease (GBA), 8 Variants   Gaucher Disease GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
2014459 Gaucher Disease (GBA), Enzyme Activity in Leukocytes   Gaucher Disease Gaucher GBA glucocerebrosidase glucosidase
Genomic Microarray
2003414 Cytogenomic SNP Microarray Genomic Microarray CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID
2006267 Cytogenomic SNP Microarray Buccal Swab Genomic Microarray CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab, intellectual disability, developmental disability, IDD, ID
2009353 Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood Genomic Microarray SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
2006325 Cytogenomic SNP Microarray—Oncology Additional Technical Information Genomic Microarray CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2002366 Cytogenomic SNP Microarray—Fetal Genomic Microarray ARRAY FE, array, CGH, aCGH, CNV, ultrasound anomalies, birth defects, amnio, amniotic fluid, CVS, villi, cultured cells
2005633 Genomic SNP Microarray, Products of Conception Genomic Microarray ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells
2010795 Cytogenomic Molecular Inversion Probe Array, FFPE Tissue - Products of Conception Genomic Microarray ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells, parafin-embedded, formalin-fixed, tissue block,
Genomic Microarray (FISH)
3001313 MET Gene Amplification by FISH Genomic Microarray (FISH)  
GLI3-Related Disorders
2011465 GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication GLI3-Related Disorders GLI3 FGA, Greig cephalopolysyndactyly, Pallister-Hall, Pallister Hall, polydactyly
2011470 GLI3-related disorders (GLI3) Sequencing   GLI3-Related Disorders GLI3 FGS, Greig cephalopolysyndactyly, Pallister-Hall, Pallister Hall, polydactyly
Glutarylcarnitine
2001510 Glutarylcarnitine, Quantitative, Urine   Glutarylcarnitine C5DC URINE GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I
Hearing Loss
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations Hearing Loss HL PANEL, m.1555A>G, m.7445A>G, Connexin 26, Connexin 30
0051374 Connexin 26 (GJB2) Sequencing Hearing Loss CX26SEQ, Hearing Loss
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Additional Technical Information Hearing Loss GJB6 DEL, Hearing Loss
2008803 Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Hearing Loss EHL PANEL, hearing loss, nonsyndromic, syndromic, nonsyndromic hearing loss, syndromic hearing loss, ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, PJVK, DIAPH1, DNMT1, DSPP, ESPN, ESRRB, EYA4, GJB2, Connexin 26, Connexin, GJB3, GJB6, Connexin 30, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Usher, deafness, deaf, 3MC, Wolfram ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, DIAPH1, DNMT1, DSPP, ESRRB, EYA4, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, HARS2, HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, PCDH15, PJVK, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, Connexin 26, Connexin 30, Usher, Wolfram, 3MC
Hemoglobin Lepore
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Hemoglobin Lepore LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
Hemoglobinopathies
2005792 Hemoglobin Evaluation Reflexive Cascade Hemoglobinopathies HB CASCADE
0050578 Beta Globin (HBB) Gene Sequencing Hemoglobinopathies  
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Hemoglobinopathies BG FGA, Beta thalassemia, beta globin, HBB
0050388 Beta Globin (HBB) Sequencing, Fetal Hemoglobinopathies  
2010113 Beta Globin (HBB) Deletion/Duplication Hemoglobinopathies BG DD, Beta thalassemia, beta globin, HBB
2011622 Alpha Globin (HBA1 and HBA2) Deletion/Duplication Hemoglobinopathies HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Hemoglobinopathies ALPHA THAL, Hemoglobinopathies
3001957 Gamma Globin (HBG1 and HBG2) Sequencing Hemoglobinopathies A-gamma, G-gamma
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Hemoglobinopathies LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
0050610 Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility Hemoglobinopathies  
0050520 Hemoglobin S, Evaluation with Reflex to RBC Solubility   Hemoglobinopathies SCKL
2013399 Hemoglobin S, Sickle Solubility   Hemoglobinopathies SICKLE
2002984 Oxygen Dissociation (P50) by Hemoximetry   Hemoglobinopathies HEMOX
0049090 Heinz Body Stain   Hemoglobinopathies Unstable Hemoglobinopathies, Hemolytic Anemias
2005757 Carboxyhemoglobin Quantitation, Whole Blood by Co-Oximetry   Hemoglobinopathies CARBOXY HB
0049020 Hemoglobin, Unstable   Hemoglobinopathies HGB UNSTAB
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Hemoglobinopathies LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
Hemophilia A
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilia A F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001759 Hemophilia A (F8) 2 Inversions Hemophilia A F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilia A F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilia A F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
Hemophilia B
2001578 Hemophilia B (F9) Sequencing Hemophilia B F9 FGS, Factor IX, Factor 9, bleeding, Christmas
2010494 Hemophilia B (F9) Sequencing and Deletion/Duplication Hemophilia B Christmas disease, F9, Factor IX
Hemophilias
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilias F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001759 Hemophilia A (F8) 2 Inversions Hemophilias F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilias F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilias F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
2001578 Hemophilia B (F9) Sequencing Hemophilias F9 FGS, Factor IX, Factor 9, bleeding, Christmas
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons Hemophilias VWF2A SEQ
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing   Hemophilias VWF2N SEQ
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing   Hemophilias VWF2M SEQ
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing   Hemophilias VWF2B SEQ
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations   Hemophilias GP1BA SEQ
2010494 Hemophilia B (F9) Sequencing and Deletion/Duplication Hemophilias Christmas disease, F9, Factor IX
Hereditary Hemochromatosis
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) Hereditary Hemochromatosis HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
Hereditary Hemolytic Anemia
2012052 Hereditary Hemolytic Anemia Panel, Sequencing Hereditary Hemolytic Anemia HHA SEQ, CANCER DD, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-JegherHHA SEQ, RBC membrane defects; RBC enzymopathies; Hereditary spherocytosis; Hereditary elliptocytosis; Hereditary pyropoikilocytosis; Dehydrated hereditary stomatocytosis; Xerocytosis, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer
Hereditary Hemorrhagic Telangiectasia (HHT)
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication   Hereditary Hemorrhagic Telangiectasia (HHT) HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2009008 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT REFLEX, hereditary hemorrhagic telangiectasia
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication   Hereditary Hemorrhagic Telangiectasia (HHT) HHT FGA, hereditary hemorrhagic telangiectasia
0051381 ACVRL1 and ENG Sequencing   Hereditary Hemorrhagic Telangiectasia (HHT) HHT-FGS, hereditary hemorrhagic telangiectasia
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051510 Juvenile Polyposis (SMAD4) Sequencing   Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing Hereditary Hemorrhagic Telangiectasia (HHT) BMP9 FGS, capillary malformations, HHT, HHT5
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes Hereditary Hemorrhagic Telangiectasia (HHT) VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM
2007390 Vascular Malformations Sequencing, 10 Genes   Hereditary Hemorrhagic Telangiectasia (HHT) VACS SEQ, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM
2007380 Vascular Malformations Deletion/Duplication, 10 Genes   Hereditary Hemorrhagic Telangiectasia (HHT) VASC DD, RASA1, ENG, ACVRL1, ALK1, SMAD4, PTEN, TIE2. TEK, GLMN, KRIT1, CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM
Hereditary Non-Polyposis Colon Cancer (HNPCC)
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Hereditary Non-Polyposis Colon Cancer (HNPCC) BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel Hereditary Paraganglioma-Pheochromocytoma Syndromes  
2006948 SDHB with Interpretation by Immunohistochemistry   Hereditary Paraganglioma-Pheochromocytoma Syndromes  
2011461 Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHA FGS
2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes  
2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes  
2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes  
HLA Testing
2011264 HLA Class I Panel (ABC) by NGS   HLA Testing HLA I NGS
2011272 HLA Class II (DRB1 and DQB1) by NGS   HLA Testing HLA II NGS
2012482 HLA-A by Next Generation Sequencing   HLA Testing HLA A NGS
2012486 HLA-B by Next Generation Sequencing   HLA Testing HLA B NGS
2012490 HLA-C by Next Generation Sequencing   HLA Testing HLA C NGS
2012494 HLA-DRB1 by Next Generation Sequencing   HLA Testing HLA DRB1
2012498 HLA-DQB1 by Next Generation Sequencing   HLA Testing HLA DQB1
2012502 HLA-DPB1 by Next Generation Sequencing   HLA Testing HLA DPB1
HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping
2012049 HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping  
HLA-B*5701 (Abacavir Sensitivity) Genotyping
2002429 HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity HLA-B*5701 (Abacavir Sensitivity) Genotyping HLA-B5701, Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR
HLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping
3001393 HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity HLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping  
HLA-B27 (Ankylosing Spondylitis) Genotyping
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) Genotyping HLAB27 PCR, IBD
Holoprosencephaly
2008848 Holoprosencephaly Panel, Sequencing and Deletion/Duplication   Holoprosencephaly HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008863 Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Holoprosencephaly HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
Huntington Disease
0040018 Huntington Disease (HD) Mutation by PCR Huntington Disease HD, Huntington chorea, CAG trinucleotide repeats, HTT
Hypochondroplasia
0051367 Hypochondroplasia (FGFR3) 2 Mutations Hypochondroplasia HYPOCH, Skeletal Dysplasias, N540K, c.1620C>A, c.1620C>G
Insulin Resistance Syndromes
2006274 Inherited Insulin Resistance Syndromes (INSR) Sequencing Additional Technical Information Insulin Resistance Syndromes INSR FGS Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans IRAN Type A Donohue Syndrome Insulin Receptor Defect Leprechaunism Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities Rabson-Mendenhall Syndrome
Interleukin 28 B Associated SNP—Genotyping
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs Interleukin 28 B Associated SNP—Genotyping IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα
Juvenile Polyposis
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication   Juvenile Polyposis BMPR1A FGA, JPS, SMAD4
2004988 Juvenile Polyposis (BMPR1A) Sequencing   Juvenile Polyposis BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Juvenile Polyposis SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051510 Juvenile Polyposis (SMAD4) Sequencing   Juvenile Polyposis SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
Kabuki Syndrome
2009306 Kabuki Syndrome (KMT2D) Sequencing Kabuki Syndrome KMT2D FGS, MLL2
Kell Antigen Genotyping
3002001 Kell K/k Antigen (KEL) Genotyping Kell Antigen Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
Legius Syndrome
2008347 Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication Legius Syndrome LS FGA, SPRED1
2002945 Legius Syndrome (SPRED1) Sequencing Legius Syndrome LS FGS, SPRED1, Neurofibromatosis, LS, NF 1-like
Li-Fraumeni Syndrome
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Li-Fraumeni Syndrome TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Li-Fraumeni Syndrome TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
LMNA–Related Disorders
2004543 LMNA-Related Disorders (LMNA) Sequencing LMNA–Related Disorders LMNA FGS, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, Hutchinson-Gilford progeria, HGPS, Charcot-Marie-Tooth 2B1, CMT2B1, Familial partial lipodystrophy Dunnigan type, FLPD, dilated cardiomyopathy, DCM, mandibulo-acral dysplasia, MAD, atypical Werner,C236 WS, restrictive dermopathy, RD
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication LMNA–Related Disorders LMNA DD, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, dilated cardiomyopathy, DCM
Loeys-Dietz Syndrome
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome LDS FGS, Loeys-Dietz, aortic aneurysm
Lynch Syndrome
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Lynch Syndrome BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information Lynch Syndrome MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information Lynch Syndrome MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information Lynch Syndrome MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information Lynch Syndrome MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Lynch Syndrome MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Lynch Syndrome MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Lynch Syndrome MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Lynch Syndrome PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information Lynch Syndrome HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
Lysosomal Acid Lipase
2012266 Lysosomal Acid Lipase Activity, Dried Blood Spot   Lysosomal Acid Lipase Wolman Disease
Marfan Syndrome and Marfan/FBN1-Related Disorders
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Marfan Syndrome and Marfan/FBN1-Related Disorders FBN1 FGA
2005589 Marfan Syndrome (FBN1) Sequencing   Marfan Syndrome and Marfan/FBN1-Related Disorders FBN1 FGS
Medium Chain Acyl-CoA Dehydrogenase (MCAD)
0051205 Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations Medium Chain Acyl-CoA Dehydrogenase (MCAD) MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD deficiency, ACADM
0051758 Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing Additional Technical Information Medium Chain Acyl-CoA Dehydrogenase (MCAD) MCAD FGS, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD Deficiency ACADM Sequencing
Menkes and Occipital Horn Syndromes
2007872 ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing   Menkes and Occipital Horn Syndromes ATP7A FGS, Menkes disease, occipital horn syndrome, X-linked cutis laxa, ATP7A-related distal motor neuropathy, MNK
Methylenetetrahydrofolate Reductase (MTHFR)
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR) MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
Methylmalonic Acid
2005255 Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) Methylmalonic Acid MMA METD Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA
Microsatellite Instability (MSI)
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information Microsatellite Instability (MSI) MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information Microsatellite Instability (MSI) MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information Microsatellite Instability (MSI) MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
Molar Pregnancy
0051755 Molar Pregnancy, 16 DNA Markers   Molar Pregnancy MOL PREG, Gestational Trophoblastic Disease
Mucolipidosis IV
2012259 Keratan Sulfate, Quantitative by LC-MS/MS, Urine   Mucolipidosis IV Keratan Sulfate, Quantitative by LC-MS/MS, Urine, MPS IVa
0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Mucolipidosis IV MCOLN1, Jewish Genetic, lysosomal
Mucopolysaccharidoses (MPS)
0081352 Mucopolysaccharides Electrophoresis and Quantitation, Urine Mucopolysaccharidoses (MPS) MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII
0081357 Mucopolysaccharides, Quantitative, Urine   Mucopolysaccharidoses (MPS) MPS QNT Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB1 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII
2011415 Alpha-Iduronidase Enzyme Activity in Leukocytes Mucopolysaccharidoses (MPS) A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI
2007599 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma   Mucopolysaccharidoses (MPS) MPSI QNT S, Alpha-L-Iduronidase Deficiency, Mucopolysaccharidosis Type I, IDUA Deficiency, MPS I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome, IDUA, Alpha-L-iduronidase, MPSI
2007488 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Urine   Mucopolysaccharidoses (MPS) MPSI QNT U, Alpha-L-Iduronidase Deficiency, Mucopolysaccharidosis Type I, IDUA Deficiency, MPS I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome, IDUA, Alpha-L-iduronidase, MPSI
2008775 Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma   Mucopolysaccharidoses (MPS) MPS2 QNT S, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII
2009282 Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Urine   Mucopolysaccharidoses (MPS) MPS2 QNT U, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII
Multiple Endocrine Neoplasia Type 1 (MEN1)
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1) MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing   Multiple Endocrine Neoplasia Type 1 (MEN1) MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
Multiple Endocrine Neoplasia Type 2 (MEN2)
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Multiple Endocrine Neoplasia Type 2 (MEN2) MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
Muscular Dystrophy
2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Muscular Dystrophy DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Muscular Dystrophy DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Muscular Dystrophy DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Muscular Dystrophy DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
3001907 Myotonic Dystrophy Type 1 (DMPK) CTG Expansion Muscular Dystrophy  
Narcolepsy
2005023 Narcolepsy (HLA-DQB1*06:02) Genotyping Narcolepsy NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep
Neurodegenerative Disorders
3001585 Early-Onset Alzheimer's Panel, Sequencing Neurodegenerative Disorders  
Neurofibromatosis Type 1
2007154 Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Neurofibromatosis Type 1  
2007159 Neurofibromatosis Type 1 (NF1) Sequencing   Neurofibromatosis Type 1  
2001952 Neurofibromatosis Type 1 (NF1) Deletion/Duplication Additional Technical Information Neurofibromatosis Type 1  
Niemann-Pick Disease Type A
0051458 Niemann-Pick, Type A (SMPD1), 4 Variants Niemann-Pick Disease Type A SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
Non-Alcoholic Fatty Liver Disease
2014599 Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping Non-Alcoholic Fatty Liver Disease hepatic steatosis genotyping
Non-Invasive Prenatal Testing (Cell-Free DNA)
2007537 Non-Invasive Prenatal Testing for Fetal Aneuploidy Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen
2013142 Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion Additional Technical Information Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen
2010232 Non-Invasive Prenatal Testing for Fetal Aneuploidy with Microdeletions Non-Invasive Prenatal Testing (Cell-Free DNA) NIPTANEUMD, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, Microdeletion, deletion, DiGeorge, Velocardiofacial, VCF, VCFS, 22q, del22, Angelman, Prader-Willi, 15q, PWS, 5p-, 5p, cri du chat, cri-du-chat, 1p36, InformaSeq, Qnatal, Pregnancy Screen
Noonan Syndrome
0051805 Noonan Syndrome (PTPN11) Sequencing Noonan Syndrome PTPN11 FGS, Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis
2004189 Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing Noonan Syndrome NS REFLEX, Neurocognitive Impairments, NS, Leopard, Noonan-like/multiple giant-cell lesion
2004195 Noonan Syndrome (SOS1) Sequencing Noonan Syndrome SOS1 FGS, Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion
2010772 Noonan Spectrum Disorders Panel, Sequencing Noonan Syndrome NOONAN SEQ, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAB20AL, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair
2010769 Noonan Spectrum Disorders Panel, Sequencing, Fetal Noonan Syndrome NOONAN FE, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAB20AL, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair
Oncology Studies
2002292 Chromosome Analysis, Bone Marrow   Oncology Studies Acute Lymphoblastic Leukemia, Acute Myelogenous Leukemia, MDS, B-cell lymphomas, T-cell lymphomas
2002290 Chromosome Analysis, Leukemic Blood   Oncology Studies Acute Lymphoblastic Leukemia, Acute Myelogenous Leukemia, MDS, B-cell lymphomas, T-cell lymphomas
2007130 Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2007131 Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies  
2002300 Chromosome Analysis, Lymph Node   Oncology Studies CHR ONC, biopsy, karyotype, cancer, oncology, lymphoma
2002296 Chromosome Analysis, Solid Tumor   Oncology Studies CHR ST, Sarcoma, Ewings
Oncology Studies, FISH—Blood and Bone Marrow Panels
2002647 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult Oncology Studies, FISH—Blood and Bone Marrow Panels FISH A ALL, B-Cell Lymphoma, MYC BCR-ABL1, MLL, IGH@, TCF3, E2A
2002719 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric Oncology Studies, FISH—Blood and Bone Marrow Panels FISH P ALL, Oncology, Bone Marrow , B-Cell Lymphoma, childhood, child, children, CEP4, CEP10, BCR-ABL1 MLL, ETV6-RUNX1, TEL-AML1
2002653 Acute Myelogenous Leukemia (AML) with Myelodysplastic Syndrome (MDS), or Therapy-Related AML, by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels F TAML MDS, Myelodysplastic syndrome, Acute Myeloid Leukemia, EGR1, D7S486, MLL
2011132 Acute Myelogenous Leukemia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD, PML-RARA, RUNX1T1-RUNX1, ETO-AML1, CBFB, MLL, RPN1/MECOM, EVI1, EGR1, D7S486, KMT2A
2002295 Chromosome FISH, CLL Panel Oncology Studies, FISH—Blood and Bone Marrow Panels FISH CLLP, Chronic Lymphocytic Leukemia, CLL, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers, ATM, D12Z3, D13S319, TP53, p53
2006270 Chromosome FISH, Multiple Myeloma Panel Process and Hold   Oncology Studies, FISH—Blood and Bone Marrow Panels MMF PR &HLD
2002378 Eosinophilia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH EOS P, Mast Cell Disease, Eosinophilic Diseases, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), PDGFRA-CHIC2-FIP1L1, PDGFRB, FGFR1, CBFB
2002650 Lymphoma (Aggressive) Panel by FISH Additional Technical Information Oncology Studies, FISH—Blood and Bone Marrow Panels FISH ALYMP, Lymphoma Phenotyping, B-Cell Lymphomas, Lymphoproliferative Disorders (LPD), BCL6, MYC, IGH@/BCL2
2002294 Multiple Myeloma Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH MMP, Plasma Cell Dyscrasias, CKS1B, ASS1, CCND1-IGH@, IGH@, PML, TP53, FGFR3-IGH@, IGH@-MAF
2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH MDS P, Myelodysplastic Syndrome (MDS), EGR1, D7S486, CEP8, D20S108
2002360 Myeloproliferative Disorders Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH MPD P, Chronic Myelogenous Leukemia (CML), Myeloproliferative Neoplasms (MPN), PDGFRα-CHIC2-FIP1L1, PDGFRa-CHIC2-FIP1L1, PDGFRβ, FGFR1, ABL1-BCR
2002363 PML/RARα Translocation by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH PML, Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Tumor Markers
Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe
2011132 Acute Myelogenous Leukemia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD, PML-RARA, RUNX1T1-RUNX1, ETO-AML1, CBFB, MLL, RPN1/MECOM, EVI1, EGR1, D7S486, KMT2A
2002298 Chromosome FISH, Interphase—ASS1; +9/9q34   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma; Chronic Myelogenous Leukemia; CML
2002298 Chromosome FISH, Interphase—ATM; del(11)(q22.3)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Chronic Lymphocytic Leukemia; CLL
2002298 Chromosome FISH, Interphase—BCL6; 3q27   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Diffuse large cell lymphoma; Aggressive lymphoma
2002298 Chromosome FISH, Interphase—BCR-ABL1; t(9;22)(q34;q11.2)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myeloproliferative Disorder; Chronic Myelogenous Leukemia; CML; Acute Lymphocytic Leukemia; ALL; Adult; Pediatric
2002298 Chromosome FISH, Interphase—CBFB; inv(16)(p13.3q22)/t(16;16)(p13;q22)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Eosinophilia; Acute Myeloid Leukemia; AML
2002298 Chromosome FISH, Interphase—CCND1-IGH@; t(11;14)(q13;q32)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma; Mantle cell lymphoma
2002298 Chromosome FISH, Interphase—Chromosome 10, centromere   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Acute Lymphocytic Leukemia; ALL; Pediatric
2002298 Chromosome FISH, Interphase—Chromosome 4, centromere   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Acute Lymphocytic Leukemia; ALL; Pediatric
2002298 Chromosome FISH, Interphase—Chromosome 8, centromere   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myelodysplastic Syndrome
2002298 Chromosome FISH, Interphase—CKS1B; 1q21   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma
2002298 Chromosome FISH, Interphase—D12Z3; +12   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Chronic Lymphocytic Leukemia; CLL
2002298 Chromosome FISH, Interphase—D13S319; del(13)(q14.3)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Chronic Lymphocytic Leukemia; CLL
2002298 Chromosome FISH, Interphase—D20S108; del(20)(q12)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myelodysplastic Syndrome
2002298 Chromosome FISH, Interphase—D7S486; del(7)(q31)/-7   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML
2002298 Chromosome FISH, Interphase—DDIT3 (CHOP); 12q13   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myxoid Liposarcoma
2002298 Chromosome FISH, Interphase—EGR1; del(5)(q31)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML
2002298 Chromosome FISH, Interphase—ETV6-RUNX1 (TEL-AML1); t(12;21)(p13;q22)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Acute Lymphocytic Leukemia; ALL; Pediatric
2002298 Chromosome FISH, Interphase—EWSR1; 22q12.2   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Ewing sarcoma; Ewings
2002298 Chromosome FISH, Interphase—FGFR1; 8p12   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myeloproliferative Disorder; Eosinophilia
2002298 Chromosome FISH, Interphase—FGFR3-IGH@; t(4;14)(p16;q32)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma
2002298 Chromosome FISH, Interphase—IGH@-BCL2; t(14;18)(q32;q21)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Follicular lymphoma; Aggressive lymphoma
2002298 Chromosome FISH, Interphase—IGH@-MAF; t(14;16)(q32;q23.1)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma
2002298 Chromosome FISH, Interphase—IGH@; 14q32   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma; IGH rearrangement; lymphoma; Acute Lymphocytic Leukemia; ALL; Adult
2002298 Chromosome FISH, Interphase—MALT1; 18q21   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Lymphoma
2002298 Chromosome FISH, Interphase—MLL; 11q23   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Acute Myelogenous Leukemia; AML; Acute Myeloid Leukemia; Therapy-related AML; Acute Lymphocytic Leukemia; ALL; Adult; Pediatric
2002298 Chromosome FISH, Interphase—MYC; 8q24   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Burkitt lymphoma; Aggressive lymphoma; Acute Lymphocytic Leukemia; ALL; Adult
2002298 Chromosome FISH, Interphase—PDGFRα-CHIC2-FIP1L1; 4q12   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myeloproliferative Disorder; Eosinophilia
2002298 Chromosome FISH, Interphase—PDGFRβ; 5q32   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Myeloproliferative Disorder; Eosinophilia
2002298 Chromosome FISH, Interphase—PML-RARA; t(15;17)(q22;q21)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Acute Myeloid Leukemia; AML
2002298 Chromosome FISH, Interphase—PML; +15   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma
2002298 Chromosome FISH, Interphase—RUNX1T1-RUNX1 (ETO-AML1); t(8;21)(q22;q22)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Acute Myeloid Leukemia; AML
2002298 Chromosome FISH, Interphase—SS18 (SYT); 18q11.2   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Synovial sarcoma
2002298 Chromosome FISH, Interphase—TCF3 (E2A); 19p13   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Acute Lymphocytic Leukemia; ALL; Adult
2002298 Chromosome FISH, Interphase—TP53 (p53); del(17)(p13.1)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Multiple Myeloma; Chronic Lymphocytic Leukemia; CLL
ncology Studies, FISH—Other
2002528 Pancreatobiliary FISH   Oncology Studies, FISH—Other PF, Pancreatic Cancer, Tumor Markers
2001181 UroVysion FISH Oncology Studies, FISH—Other UF, Bladder Cancer, Tumor Markers, urine
Oncology Studies, FISH—Paraffin Block
3001309 1p/19q Deletion by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block 1p19q, Oncology, Paraffin, Brain Tumors, Tumor
2008603 ERBB2 (HER-2/neu) Gene Amplification by FISH, Tissue Oncology Studies, FISH—Paraffin Block HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, pathvision, pathvysion
2007227 MYCN (N-MYC) Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block NMYC, Neuroblastoma, Tumor Markers
3001303 SS18 (SYT) (18q11) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block  
3001495 Aggressive B-Cell Lymphoma Reflex Panel by FISH, Tissue Additional Technical Information Oncology Studies, FISH—Paraffin Block  
3001304 DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma
3001310 EGFR Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block EGFRFISH, Head and Neck Cancer, Lung Cancer, Brain Tumors
3001305 EWSR1 (22q12) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers
3001297 FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma
3001298 IGH-BCL2 Fusion, t(14;18) by FISH for Detection in Follicular Lymphoma Additional Technical Information Oncology Studies, FISH—Paraffin Block B-Cell Lymphomas, Follicular lymphoma, Diffuse large B-cell lymphoma, FISH
3001306 IGH-CCND1 Fusion, t(11;14) by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block Mantle cell lymphoma, B-Cell Lymphomas, Plasma cell dyscrasias, Tumor Markers
3001299 IGH-MYC Fusion t(8;14) by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block Burkitt lymphoma, B-Cell Lymphomas
3001301 MDM2 Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2
3001300 MYC (8q24) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block Burkitt lymphomas, B-Cell Lymphomas, Double Hit lymphomas, Tumor Markers
Oncology Studies, Microarray
2007130 Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies, Microarray ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2007131 Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies, Microarray  
2010229 Cytogenomic Molecular Inversion Probe Array, Copy Number and Heterozygosity Assessment - Formalin-Fixed Paraffin-Embedded (FFPE) Tissue   Oncology Studies, Microarray FFPE ARRAY, array CGH; aCGH; Array Comparative Genomic Hybridization; Chromosomal Microarray; CMA; CGH; Microarray; Single-nucleotide-polymorphism (SNP) array; Whole Genome Array; tumor; oncology, formalin-fixed, paraffin-embedded, FFPE; tissue
2006325 Cytogenomic SNP Microarray—Oncology Additional Technical Information Oncology Studies, Microarray CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2012182 Myeloid Malignancies Somatic Mutation and Copy Number Analysis Panel Oncology Studies, Microarray MYE CMANGS same as CMA ONC, MYE NGS
Opioid Receptor, Mu
2008767 Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant Additional Technical Information Opioid Receptor, Mu OPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism
Organic Acids
0098389 Organic Acids, Urine Organic Acids ORG AC 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 5-Oxoprolinuria Glutathione Synthetase Deficiency Oxoprolinase Deficiency Pyroglutamicaciduria GSS Glutathione synthetase Pyroglutamic Aciduria Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Alkaptonuria Alcaptonuria HGD Homogentisate 1,2-dioxygenase Homogentisic acid Canavan Disease ASPA deficiency Aspartoacylase Deficiency ASPA Aspartoacylase NAA N-acetylaspartic acid N acetyl aspartic acid Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Glycerol Kinase Deficiency GKD Hyperglycerolemia GK Glycerol kinase Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Hyperoxaluria, Primary, Type 1 Alanine-Glyoxylate Aminotransferase Deficiency Glycolic Aciduria Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency AGXT Serine--pyruvate aminotransferase oxalate Isovaleric Acidemia IVD Isovaleryl-CoA dehydrogenase, mitochondrial IVA Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Malonyl-CoA Decarboxylase Deficiency Malonic Aciduria MLYCD Malonyl-CoA decarboxylase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Mevalonicaciduria Mevalonate Kinase Deficiency MVK Mevalonate kinase mevalonic acid Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Succinic Semialdehyde Dehydrogenase Deficiency 4-Hydroxybutyric Aciduria Gamma-Hydroxybutyric Aciduria SSADH Deficiency ALDH5A1 Succinate-semialdehyde dehydrogenase, mitochondrial Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
0099289 Organic Acids, Plasma   Organic Acids ORG AC P
Ornithine Transcarbamylase Deficiency
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC FGA, Urea cycle
2004901 Ornithine Transcarbamylase Deficiency (OTC) Sequencing   Ornithine Transcarbamylase Deficiency OTC FGS, Urea cycle
Orotic Acid
3000704 Orotic Acid, Urine Orotic Acid OROTIC ACI Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Orotic Aciduria UMPS Uridine 5'-monophosphate synthase
Ovarian Cancer
2012026 Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication Ovarian Cancer BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication Ovarian Cancer BRCA FGA, BRACA, HBOC
2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing Ovarian Cancer BRCA FGS, BRACA, HBOC
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Ovarian Cancer MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Ovarian Cancer MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Ovarian Cancer MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Ovarian Cancer PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information Ovarian Cancer HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
Pancreatitis
2010876 Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing Pancreatitis  
3001768 Pancreatitis (PRSS1) Sequencing and Deletion/Duplication Pancreatitis  
3001760 Pancreatitis (PRSS1) Deletion/Duplication Pancreatitis  
2002012 Pancreatitis, (SPINK1) Sequencing   Pancreatitis SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor
3001764 Pancreatitis (SPINK1) Deletion/Duplication   Pancreatitis  
2010703 Pancreatitis (CTRC) Sequencing   Pancreatitis Idiopathic pancreatitis, CTRC Sequencing
Periodic Fever Syndromes
2002658 Familial Mediterranean Fever (MEFV) Sequencing Periodic Fever Syndromes FMF FGS, DNA
2007370 Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Periodic Fever Syndromes PRFEVERPAN, MEFV, MVK, LPIN2, TNFRSF1A, NLRP3, CIAS1, ELANE, ELA2, PSTPIP1, pyrin, mevalonate kinase, lipin-2, tumor necrosis factor receptor 1, cryopyrin, neutrophil elastase, proline-serine-threonine phosphatase-interacting protein 1, CD2-binding protein 1, Familial Mediterranean Fever, FMF, Hyperimmunoglobulinemia D syndrome, HIDS, Majeed Syndrome, TRAPS, Familial Cold Autoinflammatory Syndrome, FCAS, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease, NOMID, chronic infantile neurological cutaneous and articular syndrome, CINCA, Severe Congenital Neutropenia, Cyclic Neutropenia, Kostmann syndrome, genetic infantile agranulocytosis, Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, PAPA ELANE/ELA2, LPIN2, MEFV, MVK, NLRP3/CIAS1, PSTPIP1, TNFRSF1A, chronic infantile neurological cutaneous and articular syndrome (CINCA), Cyclic Neutropenia, Familial Cold Autoinflammatory Syndrome (FCAS), Familial Mediterranean Fever (FMF), Hyperimmunoglobulinemia D syndrome (HIDS), Majeed Syndrome, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease (NOMID), Severe Congenital Neutropenia, [Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)], Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
Peroxisomal Disorders
2004250 Very Long-Chain and Branched-Chain Fatty Acids Profile Peroxisomal Disorders VLCFA Adrenoleukodystrophy, X-Linked X-ALD Adrenomyeloneuropathy ABCD1 ATP-binding cassette sub-family D member 1 XALD X ALD ABCD 1 Peroxisomal Bifunctional Enzyme Deficiency HSD17B4 Peroxisomal multifunctional enzyme type 2 Pseudoneonatal Adrenoleukodystrophy Peroxisomal Acyl-CoA Oxidase Deficiency ACOX1 Peroxisomal acyl-coenzyme A oxidase 1 Refsum Disease Adult Refsum Disease Hereditary Motor and Sensory Neuropathy IV Phytanic Acid Oxidase Deficiency Phytanic Acid Storage Disease Refsum Syndrome PEX7-Related Refsum Disease PHYH-Related Refsum Disease PEX7 Peroxisomal targeting signal 2 receptor PHYH Phytanoyl-CoA dioxygenase, peroxisomal Zellweger Syndrome Spectrum Neonatal Adrenoleukodystrophy Refsum Disease, Infantile Zellweger Syndrome PEX1 Peroxisome biogenesis factor 1 PEX10 Peroxisome assembly protein 10 PEX12 Peroxisome assembly protein 12 PEX13 Peroxisomal membrane protein PEX13 PEX14 Peroxisomal membrane protein PEX14 PEX16 Peroxisomal membrane protein PEX16 PEX19 Peroxisomal biogenesis factor 19 PEX2 Peroxisome assembly factor 1 PEX26 Peroxisome assembly protein 26 PEX3 Peroxisomal biogenesis factor 3 PEX5 Peroxisomal targeting signal 1 receptor PEX6 Peroxisome assembly factor 2 ZSS NALD IRD Infantile Refsum
Peutz-Jeghers
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Peutz-Jeghers STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing   Peutz-Jeghers STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation
Phenylalanine
0080336 Phenylalanine and Tyrosine, Plasma (monitoring only)   Phenylalanine PHE/TYR, PKU
0080315 Phenylalanine Monitoring, Plasma (monitoring only)   Phenylalanine QNTPHE, PKU
Pipecolic Acid
2007406 Pipecolic Acid, Serum or Plasma Pipecolic Acid PIPECOL SP, peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD Peroxisome Biogenesis, ZSS, NALD, IRD
2008131 Pipecolic Acid, Urine   Pipecolic Acid PIPECOL U, Peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD
Plasminogen Activator Inhibitor-1
2004980 Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping Plasminogen Activator Inhibitor-1 PAI-1 GENO, Fibrinolytic, thrombosis-associated PAI-1 activity, serpin peptidase inhibitor, 4G/4G, 4G/5G, thrombotic risk
Platelet Antigen Genotyping
3000193 Platelet Antigen Genotyping Panel Platelet Antigen Genotyping HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
3001170 Platelet Antigen 1 Genotyping (HPA-1)   Platelet Antigen Genotyping HPA1, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
Polycystic Kidney Disease
2012250 Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication Polycystic Kidney Disease ADPKD FGA Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 ADPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 DPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 Adult polycystic kidney disease (APKD)
2012255 Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing   Polycystic Kidney Disease ADPKD FGS ADPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 Adult polycystic kidney disease (APKD)
Pompe Disease
2014463 Pompe Disease (GAA), Enzyme Activity in Leukocytes   Pompe Disease  
Prader-Willi Syndrome
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Prader-Willi Syndrome AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
2002299 Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13)   Prader-Willi Syndrome PWS; D15S10
2012232 Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal   Prader-Willi Syndrome AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS
Primary Antibody Deficiency
2011156 Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Primary Antibody Deficiency PAD PANEL, ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4, CVID, common variable immunodeficiency, common variable immune deficiency, common variable hypogammaglobulinemia, IgA deficiency, selective IgA deficiency, selective IgM deficiency, IgG deficiency, IgG subclass deficiency, hypogammaglobulinemia, agammaglobulinemia, panhypogammaglobulinemia, Hyper-IgM syndrome, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency, selective antibody deficiency, anti-polysaccharide antibody deficiency, late-onset combined immunodeficiency, late-onset immunoglobulin deficiency, B cell deficiency
Prothrombin (Factor II)
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) Prothrombin (Factor II) PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
PTEN-Related Disorders
2002722 PTEN-Related Disorders Sequencing   PTEN-Related Disorders PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication PTEN-Related Disorders PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
Pulmonary Arterial Hypertension (PAH)
2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication   Pulmonary Arterial Hypertension (PAH) BMPR2 FGA, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003410 Pulmonary Arterial Hypertension (BMPR2) Sequencing   Pulmonary Arterial Hypertension (PAH) BMPR2 FGS, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2010696 EIF2AK4-Associated Disorders (EIF2AK4) Sequencing Pulmonary Arterial Hypertension (PAH)  
2009345 Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication Pulmonary Arterial Hypertension (PAH) PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
Pyruvate Kinase Deficiency
3002059 Pyruvate Kinase Deficiency (PKLR) Sequencing Pyruvate Kinase Deficiency  
Rapid Sequencing
2012849 Rapid Mendelian Genes Sequencing Panel, Trio Rapid Sequencing RAPID SEQ
RASA1-Related Disorders
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication RASA1-Related Disorders RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2002730 RASA1-Related Disorders (RASA1) Sequencing RASA1-Related Disorders RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
Renal Cancer
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Renal Cancer VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing   Renal Cancer VHL FGS, Congenital polycythemia
2010214 Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication Renal Cancer RENCAPAN, RENCAPAN, renal, cancer, BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, leiomyomatosis, Mesothelioma, birt-hogg-dube, HNPCC, lynch, Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Li-Fraumeni, Tuberous sclerosis, Von Hippel BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, Birt-Hogg-Dube, leiomyomatosis, mesothelioma, tuberous sclerosis (TS), von Hippel-Lindau
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Renal Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Renal Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Renal Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
Retinitis Pigmentosa/Leber Congenital Amaurosis
2007085 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Retinitis Pigmentosa/Leber Congenital Amaurosis RP PANEL, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1, C2ORF71, CA4, CDHR1, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease
Rett Syndrome
0051378 Rett Syndrome (MECP2), Full Gene Sequencing   Rett Syndrome RETT FGS, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051614 Rett Syndrome (MECP2), Full Gene Analysis Rett Syndrome RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
Rh Genotyping
0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Rh Genotyping RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
3002002 RhC/c (RHCE) Antigen Genotyping Rh Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002003 RhE/e (RHCE) Antigen Genotyping Rh Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
Schwachman-Diamond Syndrome
2006240 Schwachman-Diamond Syndrome (SBDS) Sequencing Schwachman-Diamond Syndrome SBDS FGS, GeneDx
Serum Screening—First- and Second-Trimester Combined
3000147 Maternal Serum Screening, Integrated, Specimen #1, PAPP-A, NT Additional Technical Information Serum Screening—First- and Second-Trimester Combined MS INT1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
3000149 Maternal Serum Screening, Integrated, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A Additional Technical Information Serum Screening—First- and Second-Trimester Combined MS INT2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
3000146 Maternal Screening, Sequential, Specimen #1, hCG, PAPP-A, NT Serum Screening—First- and Second-Trimester Combined MS SEQ1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
3000148 Maternal Screening, Sequential, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A Additional Technical Information Serum Screening—First- and Second-Trimester Combined MS SEQ2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
Serum Screening—First-Trimester
3000145 Maternal Serum Screen, First Trimester, hCG, PAPP-A, NT Additional Technical Information Serum Screening—First-Trimester MS FTS, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG
Serum Screening—Second-Trimester
3000144 Maternal Serum Screen, Alpha Fetoprotein   Serum Screening—Second-Trimester MS AFP, Prenatal Screening, NTD, neural tube defects, second trimester
3000143 Maternal Serum Screen, Alpha Fetoprotein, hCG, Estriol, and Inhibin A (Quad) Serum Screening—Second-Trimester MS QUAD, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
SHOX-Related Disorders
3001401 SHOX-Related Disorders, Deletion/Duplication with Reflex to Sequencing SHOX-Related Disorders  
3001399 SHOX-Related Disorders, Sequencing SHOX-Related Disorders  
3001395 SHOX-Related Disorders, Deletion/Duplication SHOX-Related Disorders  
Sickle Cell Anemia
0050520 Hemoglobin S, Evaluation with Reflex to RBC Solubility   Sickle Cell Anemia SCKL
Skeletal Dysplasia
2012010 Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Skeletal Dysplasia SKEL FE, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, P3H1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35
2012015 Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication   Skeletal Dysplasia SKEL PANEL, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35
Skin Cancer
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Skin Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Skin Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Skin Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
Smith-Lemli-Opitz Syndrome
2011457 Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing Smith-Lemli-Opitz Syndrome DHCR7 FGS, SLO, SLOS, Smith Lemli Opitz, SLO syndrome
2011704 Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing, Fetal   Smith-Lemli-Opitz Syndrome DHCR7 FGS FE, SLO, SLOS, Smith Lemli Opitz, SLO syndrome
Spinal Muscular Atrophy (SMA)
2013436 Spinal Muscular Atrophy (SMA) Copy Number Analysis Spinal Muscular Atrophy (SMA) SMA DD
2013444 Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal   Spinal Muscular Atrophy (SMA) SMA DD FE
Statin Sensitivity
2008426 SLCO1B1, 1 Variant Statin Sensitivity SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1
Succinylacetone
2007401 Succinylacetone, Quantitative, Urine Succinylacetone Tyrosinemia Type I, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase, Hepatorenal, SUAC URINE
TACI-Associated Common Variable Immunodeficiency
2007569 TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing TACI-Associated Common Variable Immunodeficiency TACI FGS, CVID/CVID2; Immunoglobulin A (IgA) deficiency; Selective IgA deficiency-2 (IGAD2); Tumor necrosis factor receptor superfamily, member 13B; Antibody deficiency due to TACI defect; Hypogammaglobulinemia due to TACI deficiency
Tay-Sachs Disease
2008129 Hexosaminidase A and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A and Total Hexosaminidase in Leukocytes Tay-Sachs Disease HEXO RFLX, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA
2008121 Hexosaminidase A and Total Hexosaminidiase, Plasma or Serum   Tay-Sachs Disease HEXOS A P/S, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA
2008125 Hexosaminidase A and Total Hexosaminidase in Leukocytes   Tay-Sachs Disease HEXOA LEUK, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA
2009298 Tay-Sachs Disease (HEXA) Sequencing and 7.6kb Deletion Tay-Sachs Disease HEXA FGS
0051428 Tay-Sachs Disease (HEXA), 7 Variants Tay-Sachs Disease HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W
Thanatophoric Dysplasia
0051506 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations Thanatophoric Dysplasia TD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0051508 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal Thanatophoric Dysplasia TD PAN FE, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
Thiopurine Methyltransferase
3001535 TPMT and NUDT15 Thiopurine Methyltransferase 6-mercaptopurine; 6-MP; 6-TG; 6-thioguanine; AZA toxicity; Azathioprine; S-adenosyl-L-methionine genotype; Thioguanine; Thiopurine; nudix
Thrombotic Risk
0030133 Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden Thrombotic Risk THROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting
0056200 Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR)   Thrombotic Risk THROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting
Twin Zygosity Testing
0050547 Twin Zygosity (16 markers)   Twin Zygosity Testing TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation
Tyrosine
0080355 Tyrosine, Plasma   Tyrosine TYRO, Tyrosinemia
UGT1A1 Gene Analysis
3001755 UGT1A1 Sequencing UGT1A1 Gene Analysis Crigler-Najjar type 1 (CN1), Crigler-Najjar type 2 (CN2)
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 Gene Analysis UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
Vascular Malformation Syndromes
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication Vascular Malformation Syndromes VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM ACVRL1/ALK1, BMP9/GDF2, BMPR2, CAV1, CCM1/KRIT1, CCM2, CCM3/PDCD10, ENG, GLMN, KCNK3, PTEN, RASA1, SMAD4, TEK/TIE2, CM-AVM, Parkes Weber syndrome (PKWS), Proteus (PS)
  —see Cerebral Cavernous Malformation (CCM)   Vascular Malformation Syndromes  
  —see Hereditary Hemorrhagic Telangiectasia (HHT)   Vascular Malformation Syndromes  
  —see RASA1-Related Disorders   Vascular Malformation Syndromes  
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication   Vascular Malformation Syndromes HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication Vascular Malformation Syndromes RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2002730 RASA1-Related Disorders (RASA1) Sequencing Vascular Malformation Syndromes RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
2009008 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Vascular Malformation Syndromes HHT REFLEX, hereditary hemorrhagic telangiectasia
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication   Vascular Malformation Syndromes HHT FGA, hereditary hemorrhagic telangiectasia
0051381 ACVRL1 and ENG Sequencing   Vascular Malformation Syndromes HHT-FGS, hereditary hemorrhagic telangiectasia
2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing Vascular Malformation Syndromes BMP9 FGS, capillary malformations, HHT, HHT5
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
2004212 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD FGA
2002001 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing Additional Technical Information Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD FGS
Von Hippel-Lindau/Congenital Polycythemia
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing   Von Hippel-Lindau/Congenital Polycythemia VHL FGS, Congenital polycythemia
Von Willebrand Disease
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons von Willebrand Disease VWF2A SEQ
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing   von Willebrand Disease VWF2N SEQ
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing   von Willebrand Disease VWF2M SEQ
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing   von Willebrand Disease VWF2B SEQ
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations   von Willebrand Disease GP1BA SEQ
Warfarin Genotyping
3001541 Warfarin Sensitivity (CYP2C8, CYP2C9, CYP4F2, VKORC1) Genotyping Warfarin Genotyping warfarin, Coumadin
Wilson Disease
2010716 Wilson Disease (ATP7B) Sequencing Wilson Disease  
X-Chromosome Inactivation
2006352 X-Chromosome Inactivation Analysis Additional Technical Information X-Chromosome Inactivation XCI
X-Linked Adrenoleukodystrophy
2011906 Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication X-Linked Adrenoleukodystrophy ABCD1 FGA, XLALD,XL-ALD
2011902 Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing   X-Linked Adrenoleukodystrophy ABCD1 FGS, XLALD, XL-ALD
Y Chromosome Microdeletion
2001778 Y Chromosome Microdeletion Y Chromosome Microdeletion Y CHROM, Male Infertility, PCR