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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 Achondroplasia AD PCR, Skeletal Dysplasias, Neuroblastoma
0051265 Achondroplasia Mutation, Fetal   Achondroplasia AD PCR FE, Skeletal Dysplasias
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
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
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
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),  
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
0051438 Gaucher Disease (GBA), 8 Variants   Ashkenazi Jewish Panel (16 disorders), GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
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
2013745 NEB-Related Nemaline Myopathy, 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
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),  
Autism
2014314 Autism and Intellectual Disability Comprehensive Panel Autism Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray
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
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
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
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
3001855 BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication Breast Cancer
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication 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
CADASIL
3000531 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL CADASIL opathy, NOTCH3, notch3
Canavan 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)   Capillary Malformation-Arteriovenous Malformation  
3001129 Capillary Malformation-Arteriovenous Malformation 2 (EPHB4) Sequencing   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
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 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
Carrier 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
Celiac Disease
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Celiac Disease HLA CELIAC
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
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
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
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
Epilepsy
2006069 Febrile Seizures Panel   Epilepsy FEBRIL PAN
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
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  
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
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
Febrile Seizures
2006069 Febrile Seizures Panel   Febrile Seizures FEBRIL PAN
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
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
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
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
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Gastrointestinal Cancer STK11, STK11 FGA, 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
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
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
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
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 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-B*15:02 (Carbamazepine Hypersensitivity) Genotyping
2012049 HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity HLA-B*15:02 (Carbamazepine Hypersensitivity) 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-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
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
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Juvenile Polyposis SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
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
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
Loeys-Dietz Syndrome
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome LDS FGS, Loeys-Dietz, aortic aneurysm
Lynch syndrome/Non-polyposis colon cancer (HNPCC)
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
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
Methylenetetrahydrofolate Reductase (MTHFR)
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR) MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
Molar Pregnancy
0051755 Molar Pregnancy, 16 DNA Markers   Molar Pregnancy MOL PREG, Gestational Trophoblastic Disease
Mucolipidosis IV
0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Mucolipidosis IV MCOLN1, Jewish Genetic, lysosomal
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
Neurofibromatosis Type 1
2007154 Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Neurofibromatosis Type 1  
2007159 Neurofibromatosis Type 1 (NF1) Sequencing   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
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
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
Ornithine Transcarbamylase Deficiency
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC FGA, Urea cycle
Ovarian 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
3001855 BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication Breast Cancer
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Breast 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)
Peutz-Jeghers
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Peutz-Jeghers STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
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)
Prader-Willi Syndrome
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Prader-Willi Syndrome AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
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)
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  
RASA1-Related Disorders
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication RASA1-Related Disorders RASA1 FGA, RASA1, CM-AVM, Parkes Weber
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
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
SHOX-Related Disorders
3001401 SHOX-Related Disorders, Deletion/Duplication with Reflex to Sequencing SHOX-Related Disorders  
3001395 SHOX-Related Disorders, Deletion/Duplication SHOX-Related Disorders  
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
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
Tay-Sachs Disease
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
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
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)
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication   Vascular Malformation Syndromes HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
3002286 Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication Cerebral Cavernous Malformation Cerebral, CCM, Vascular, Malformation(s), CCM2, KRIT1, PDCD10
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication Vascular Malformation Syndromes RASA1 FGA, RASA1, CM-AVM, Parkes Weber
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
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