- All Genetic Tests
- Biochemical Genetics
- Cytogenetics
- FISH
- Genomics
- Hemoglobinopathies
- Hereditary Cancer
- Microarray
- Molecular Genetics
- Pharmacogenetics
- Prenatal Aneuploidy Screening
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 AD PCR FE, Skeletal Dysplasias | ||
Achondroplasia | ||||
0051266 | Achondroplasia (FGFR3) 2 Mutations | Achondroplasia, AD PCR FE, Skeletal Dysplasias | ||
0051265 | Achondroplasia Mutation, Fetal | Achondroplasia, AD PCR FE, Skeletal Dysplasias | ||
Alpha Thalassemia | ||||
3003651 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring | HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
2011622 | Alpha Globin (HBA1 and HBA2) Deletion/Duplication | Alpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, Hemoglobinopathies | ||
2011708 | Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication | Alpha Thalassemia, AG FGA, Hemoglobinopathies | ||
0051495 | Alpha Thalassemia (HBA1 & HBA2) 7 Deletions | Alpha Thalassemia, ALPHA THAL, Hemoglobinopathies | ||
3003656 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal | HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
Alpha-1-AntitrypsinAlpha-1-Antitrypsin, A1A GENO, AAT | ||||
0051256 | Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype | Alpha-1-Antitrypsin, A1A GENO, AAT, SERPINA1, S allele, Z allele, Pi typing | ||
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: |
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, β thalassemia, hemoglobinopathy, beta thalassemia | ||
2010117 | Beta Globin (HBB) Sequencing and Deletion/Duplication | Hemoglobinopathies, BG FGA, Beta thalassemia, beta globin, HBB, β thalassemia, hemoglobinopathy | ||
0050388 | Beta Globin (HBB) Sequencing, Fetal | Hemoglobinopathies, β thalassemia, hemoglobinopathy, beta thalassemia | ||
2010113 | Beta Globin (HBB) Deletion/Duplication | Hemoglobinopathies, BG DD, Beta thalassemia, beta globin, HBB | ||
2011708 | Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication | Hemoglobinopathies, AG FGA, alpha thalassemia | ||
3003651 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring | HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
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, alpha thalassemia | ||
3003656 | Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal | HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations | ||
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, hemoglobin S, sickle cell, HB S, Hgb S | ||
2013399 | Hemoglobin S, Sickle Solubility | Hemoglobinopathies, SICKLE, hemoglobin S, sickle cell, HB S, Hgb S | ||
0049090 | Heinz Body Stain | Hemoglobinopathies, Unstable Hemoglobinopathies, Hemolytic Anemias | ||
0049020 | Hemoglobin, Unstable | Hemoglobinopathies, HGB UNSTAB | ||
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 | ||||
3000894 | Hereditary Hemolytic Anemia Cascade | AK1 HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY ALDOA GLYCOGEN STORAGE DISEASE XII ANK1 SPHEROCYTOSIS, TYPE 1 CDAN1 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA CYB5R3 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE EPB41 ELLIPTOCYTOSIS 1 EPB42 SPHEROCYTOSIS, TYPE 5 G6PD NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY GCLC HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY GPI NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GSR HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY GSS HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY HK1 NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY NT5C3A HEMOLYTIC ANEMIA DUE TO URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY PFKM GLYCOGEN STORAGE DISEASE VII PGK1 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY PIEZO1 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA PKLR PYRUVATE KINASE DEFICIENCY SEC23B CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II SLC4A1 SPHEROCYTOSIS, TYPE 4 OVALOCYTOSIS, SOUTHEAST ASIAN TYPE CRYOHYDROCYTOSIS SLCO1B1 HYPERBILIRUBINEMIA, ROTOR TYPE SPTA1 ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS SPHEROCYTOSIS, TYPE 3 SPTB SPHEROCYTOSIS, TYPE 2 ELLIPTOCYTOSIS 3 TPI1 HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY UGT1A1 GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME, TYPES I AND II HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL UGT1A6 UGT1A7 | ||
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 | |
Tuberous Sclerosis Complex | ||||
3002100 | Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication | TSC1, TSC2 | ||
3002096 | Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication, Fetal | TSC1, TSC2 | ||
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 |