Molecular Genetics

ARUP offers more than 70 different DNA tests which can be utilized to detect mutation carriers, diagnose genetic disorders, test at-risk fetuses, and identify patients at high risk of developing adult-onset conditions such as Huntington disease or familial cancers. In addition, full-gene analysis is available for tests such as cystic fibrosis, beta globin, and hereditary hemorrhagic telangiectasia. Once a mutation is identified in a family, family-specific mutation testing is available.

Please click on the test code or test name to obtain a link to the Patient History Form for the desired test.

Test # Test Name Additional Information Test Keywords
2007228 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 5 Mutations 5-Fluorouracil Sensitivity 5-FU, 5-Fluorouracil Toxicity and Chemotherapeutic Response Panel, Pharmacogenetics (PGx), Colorectal Cancer
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
0051266 Achondroplasia (FGFR3) 2 Mutations Achondroplasia AD PCR, Skeletal Dysplasias, Neuroblastoma
0051265 Achondroplasia Mutation, Fetal Achondroplasia AD PCR FE, Skeletal Dysplasias
2011151 Agammaglobulinemia Panel, Sequencing (9 Genes) and Deletion/Duplication (6 Genes) Agammaglobulinemia AGG PANEL, BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1, SH2D1A, hypogammaglobulinemia, panhypogammaglobulinemia, B cell deficiency
2006230 Alagille Syndrome (JAG1) by Targeted Sequencing and Deletion/Duplication Alagille Syndrome JAG1 FGA, GeneDx
2011708 Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Alpha Thalassemia AG FGA,
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
2001582 Alpha Globin (HBA1 and HBA2) Sequencing Alpha Thalassemia AG FGS, Hemoglobinopathies
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
2002394 Alport Syndrome, X-linked (COL4A5) Deletion/Duplication Alport Syndrome ALPORT DD Renal disease, chronic kidney disease, hematuria
2013341 Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Alzheimer's Disease APOE AZ
2011152 Amyotrophic Lateral Sclerosis (ALS) Panel, Sequencing and Deletion/Duplication, 11 Genes Amyotrophic Lateral Sclerosis ALS PANEL, ALS2, ANG, FIG4, FUS, OPTN, SETX, SOD1, TARDBP, UBQLN2, VAPB, VCP
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
2006540 Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes 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
2006617 Aortopathy Sequencing, 21 Genes Aortopathies AORT SEQ, 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
2006546 Aortopathy Deletion/Duplication, 21 Genes Aortopathies AORT DD, 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
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Aortopathies FBN1 FGA
2005589 Marfan Syndrome (FBN1) Sequencing Aortopathies FBN1 FGS
2005580 Marfan Syndrome (FBN1) Deletion/Duplication Aortopathies FBN1 DD
2002705 TGFBR1 & TGFBR2 Sequencing Aortopathies LDS FGS, Loeys-Dietz, aortic aneurysm
2002697 TGFBR1 & TGFBR2 Deletion/Duplication Aortopathies LDS DELDUP, Loeys-Dietz, aortic aneurysm
—see Loeys-Dietz Syndrome Aortopathies
—see Marfan Syndrome and FBN1-Related Disorders Aortopathies
0055654 Apolipoprotein B Mutation Detection (G9775A, C9774T) Apolipoprotein B (APOB) APO B, Risk Markers - CVD (Non-traditional)
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
0051415 Ashkenazi Jewish Diseases, 16 Genes Ashkenazi Jewish Panel (16 disorders) AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15
2013725 ABCC8-Related Hyperinsulinism, 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders)
2013745 NEB-Related Nemaline Myopathy, 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders)
0051433 Bloom Syndrome (BLM),1 Variant Ashkenazi Jewish Panel (16 disorders) BLM, Jewish Genetic
0051453 Canavan Disease (ASPA), 4 Variants Ashkenazi Jewish Panel (16 disorders) ASPA, Jewish Genetic
0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Ashkenazi Jewish Panel (16 disorders) IKBKAP, Jewish Genetic Disease
0051468 Fanconi Anemia Group C, (FANCC), 2 Variants Ashkenazi Jewish Panel (16 disorders) FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
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
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)
0051614 Rett Syndrome (MECP2), Full Gene Analysis Autism RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication Autism CDKL5 FGA, X-linked infantile spasm
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Autism AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
2005564 Angelman Syndrome (UBE3A) Sequencing Autism UBE3A FGS
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
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Beta Globin BG FGA, Beta thalassemia, beta globin, HBB
0050388 Beta Globin (HBB) Sequencing, Fetal Beta Globin BG SEQ FE
2010113 Beta Globin (HBB) Deletion/Duplication Beta Globin BG DD, Beta thalassemia, beta globin, HBB
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Beta Globin HB SCE FE
0051700 Biotinidase Deficiency (BTD), 5 Mutations Biotinidase Deficiency BTD MUT, Multiple carboxylase
0051730 Biotinidase Deficiency (BTD) Sequencing Additional Technical Information Biotinidase Deficiency BTD FGS, Multiple carboxylase
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
0050421 RhCc Antigen (RHCE) Genotyping Blood Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) Genotyping Blood Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0051644 Kell K/k Antigen (KEL) Genotyping Blood Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
0051433 Bloom Syndrome (BLM),1 Variant Bloom Syndrome BLM, Jewish Genetic
2012222 Bone Marrow Failure Sequencing, 35 Genes Bone Marrow Failure BMF SEQ Bone Marrow Failure, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, acute myelogenous leukemia,
2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes Breast Cancer BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication Breast Cancer BRCA FGA, BRACA, HBOC
2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing Breast Cancer BRCA FGS, BRACA, HBOC
2011915 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Deletion/Duplication Breast Cancer BRCA DD, 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
2002726 PTEN-Related Disorders Deletion/Duplication Breast Cancer PTENDELDUP, 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
2009294 Li-Fraumeni Syndrome (TP53) Deletion/Duplication Breast Cancer TP53 DD, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Breast Cancer STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing Breast Cancer STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation
2006218 Brugada Syndrome Panel, 7 Genes Brugada Syndrome BRS PANEL, GeneDx
0051453 Canavan Disease (ASPA), 4 Variants Canavan Disease ASPA, Jewish Genetic
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes 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
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Cancer, Hereditary CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2010183 Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes) 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)
2009323 Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) Cardiomyopathy CARDIACSEQ, 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)
2006216 Arrhytmogenic Right Ventricular Cardiomyopathy (ARVC) Panel, 7 Genes Cardiomyopathy ARVC PANEL, Ventricular Dysplasia, GeneDx
2006226 Dilated Cardiomyopathy (DCM)/Left Ventricular Noncompaction (LVNC) Panel, 38 Genes Cardiomyopathy DCM PANEL, Left Ventricular Noncompaction, GeneDx
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
2004199 Carnitine Deficiency, Primary (SLC22A5) Deletion/Duplication Carnitine Deficiency PCD DELDUP, OCTN2, carnitine uptake
0051415 Ashkenazi Jewish Diseases, 16 Genes Carrier Screening Panels AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15
2007539 Prenatal Carrier Screening Targeted Mutation Panel, 85 Disorders Additional Technical Information
Disorder List
Carrier Screening Panels PCS PANEL, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007541 Prenatal Carrier Screening Targeted Mutation Panel, 85 Disorders with Fragile X Disorder List
Additional Technical Information
Carrier Screening Panels PCS PANFGX, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2008704 Prenatal Carrier Screening Next Generation Sequencing, 85 Disorders with Fragile X Disorder List
Additional Technical Information
Carrier Screening Panels PCS NGSFGX, Counsyl, carrier testing, carrier screening, universal screen, prenatal carrier screen, expanded carrier screen, NGS, next generation sequencing panel
2007543 Expanded Carrier Screening Panel Targeted Mutation, 100-Plus Disorders Disorder List
Additional Technical Information
Carrier Screening Panels ECS PANEL, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2007531 Expanded Carrier Screening Panel Targeted Mutation, 100-Plus Disorders with Fragile X Disorder List
Additional Technical Information
Carrier Screening Panels ECS PANFGX, carrier screening, Counsyl, universal screen, prenatal carrier screen, expanded carrier screen
2014000 Expanded Carrier Screening Next Generation Sequencing Additional Technical Information Carrier Screening Panels
2008701 Expanded Carrier Screening Next Generation Sequencing, 100+ Disorders with Fragile X Disorder List
Additional Technical Information
Carrier Screening Panels ECS NGSFGX, Counsyl, carrier testing, carrier screening, universal screen, prenatal carrier screen, expanded carrier screen, NGS, next generation sequencing panel
2013849 Prenatal Carrier Screening Panel by Next Generation Sequencing Additional Technical Information Carrier Screening Panels
2006224 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel, 3 Genes Catecholaminergic Polymorphic Ventricular Tachycardia CPVT PANEL, GeneDx
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders CDKL5 FGA, X-linked infantile spasm
2004931 CDKL5-Related Disorders (CDKL5) Sequencing Additional Technical Information CDKL5-Related Disorders CDKL5 FGS, X-linked infantile spasm
2004927 CDKL5-Related Disorders (CDKL5) Deletion and Duplication CDKL5-Related Disorders CDKL5 DD, X-linked infantile spasm
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as:
• Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals
• Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD
Celiac Disease HLA CELIAC
2010188 Central Nervous System Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes Central Nervous System Cancer CNSCAPAN, ALK, APC, BAP1, MLH1, MSH2, MSH6, NF2, PHOX2B, PTEN, RB1, SMARCB1, STK11, SUFU, TP53, and VHL, CNS cancer, brain cancer , central nervous system cancer, CNS tumor, brain tumor, glioblastoma, neuroblastoma, meningiomas, pituitary adenoma, medulloblastoma, neuroectodermal, hemangioblastoma, pinealoblastoma, ependymoma, vestibular schwannoma ALK, APC, BAP1, MLH1, MSH2, MSH6, NF2, PHOX2B, PTEN, RB1, SMARCB1, STK11, SUFU, TP53, VHL, CNS tumor, ependymoma, glioblastoma, hemangioblastoma, medulloblastoma, meningiomas, neuroectodermal, pinealoblastoma, pituitary adenoma, vestibular schwannoma
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Central Nervous System Cancer VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing Central Nervous System Cancer VHL FGS, Congenital polycythemia
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Central Nervous System Cancer VHL DELDUP, Brain Tumors, Pheochromocytoma
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Central Nervous System Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Central Nervous System Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Central Nervous System Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009294 Li-Fraumeni Syndrome (TP53) Deletion/Duplication Central Nervous System Cancer TP53 DD, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Central Nervous System Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2009326 Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes Cerebral Cavernous Malformation (CCM) CCM PANEL, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
2009331 Cerebral Cavernous Malformation (CCM) Sequencing, 3 Genes Cerebral Cavernous Malformation (CCM) CCM SEQ, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Cerebral Cavernous Malformation (CCM) CCM DELDUP, Cerebral Cavernous Malformation
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
2012609 CHARGE Syndrome, CHD7 Sequencing CHARGE Syndrome
2012717 CHARGE Syndrome (CHD7) Sequencing, Fetal CHARGE Syndrome
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
2006356 Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing Chronic Granulomatous Disease CGD PANEL, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006361 Chronic Granulomatous Disease, X-linked (CYBB) Gene Scanning with Reflex to Sequencing Chronic Granulomatous Disease CYBB, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006366 Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion Chronic Granulomatous Disease NCF1, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II
2006261 Citrin Deficiency (SLC25A13) Sequencing Citrin Deficiency CITRIN FGS Citrin Deficiency Citrullinemia Type II Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
2007069 Citrullinemia, Type I (ASS1) Sequencing Citrullinemia, Type I
2011157 Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes) 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
2013386 Congenital Adrenal Hyperplasia (CAH) (21-Hydroxylase Deficiency) Common Mutations Congenital Adrenal Hyperplasia (CAH)
2006220 Congenital Amegakaryocytic Thrombocytopenia (CAMT) Sequencing Congenital Amegakaryocytic Thrombocytopenia CAMT FGS, GeneDx
2008610 Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication Creatine SLC6A8 FGA, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency
2008615 Creatine Transporter Deficiency (SLC6A8) Sequencing Additional Technical Information Creatine SLC6A8 FGS, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency
2008606 Creatine Transporter Deficiency (SLC6A8) Deletion/Duplication Additional Technical Information Creatine SLC6A8 DD, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency
0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis CF-CFTR, Diagnostic, CF
0051642 Cystic Fibrosis (CFTR) Deletion/Duplication Cystic Fibrosis CFTRDELDUP, 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
0051232 Cytochrome P450 2D6 (CYP2D6) 14 Mutations and Gene Duplication Cytochrome P450 CYP 2D6, Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
2012769 Cytochrome P450 2C19, CYP2C19 - 9 Variants Cytochrome P450 CYP2C19, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
2012766 Cytochrome P450 2C9, CYP2C9 - 2 Variants Additional Technical Information Cytochrome P450 CYP2C9, Warfarin Sensitivity, Pharmacogenetics (PGx)
2012740 Cytochrome P450 3A5 Genotyping, CYP3A5, 2 Variants Cytochrome P450
2013098 Cytochrome P450 Genotype Panel Cytochrome P450 CYP PAN
2006234 Diamond-Blackfan Anemia (RPL5) Sequencing Diamond-Blackfan Anemia RPL5 FGS, GeneDx
2006236 Diamond-Blackfan Anemia (RPL11) Sequencing Diamond-Blackfan Anemia RPL11 FGS
2006238 Diamond-Blackfan Anemia (RPS19) Sequencing Diamond-Blackfan Anemia RPS19 FGS
2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Duchenne/Becker Muscular Dystrophy DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Duchenne/Becker Muscular Dystrophy DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Duchenne/Becker Muscular Dystrophy DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Duchenne/Becker Muscular Dystrophy DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2006244 Dyskeratosis Congenita, Autosomal (TERC) Sequencing Dyskeratosis Congenita TERC FGS, GeneDx
2006228 Dyskeratosis Congenita, X-linked (DKC1) Sequencing Dyskeratosis Congenita DKC1 FGS
2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Dystrophinopathies DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Dystrophinopathies DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Dystrophinopathies DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Dystrophinopathies DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
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
2005555 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI DD
2010193 Endocrine Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 13 Genes Endocrine Cancer ENDOCAPAN, CDKN1B, MAX, MEN1, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, STK11, TMEM127, TP53, VHL, endocrine cancer, pheochromocytoma, paraganglioma, follicular thyroid cancer, cribiform-morular variant, pituitary adenoma, gastric carcinorid tumor, primary hyperparathyroidism, adrenocortical adenoma,medullary thyroid carcinoma CDKN1B, MAX, MEN1, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, STK11, TMEM127, TP53, VHL, adrenocortical adenoma, cribiform-morular variant, follicular thyroid cancer, gastric carcinorid tumor, medullary thyroid carcinoma (MTC), pituitary adenoma, primary hyperparathyroidism
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Endocrine Cancer MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing Endocrine Cancer MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005346 Multiple Endocrine Neoplasia Type 1 (MEN1) Deletion/Duplication Endocrine Cancer Multiple endocrine adenomatosis, Wermer, Multiple Endocrine Neoplasias (MEN)
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Endocrine Cancer MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Endocrine Cancer VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing Endocrine Cancer VHL FGS, Congenital polycythemia
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Endocrine Cancer VHL DELDUP, Brain Tumors, Pheochromocytoma
2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel Endocrine Cancer
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Endocrine Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2006948 SDHB with Interpretation by Immunohistochemistry Endocrine Cancer
2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer
2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer
2002722 PTEN-Related Disorders Sequencing Endocrine Cancer PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer
2002726 PTEN-Related Disorders Deletion/Duplication Endocrine Cancer PTENDELDUP, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2007113 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication Additional Technical Information Endocrine Cancer
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Endocrine Cancer PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Endocrine Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Endocrine Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009294 Li-Fraumeni Syndrome (TP53) Deletion/Duplication Endocrine Cancer TP53 DD, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Endocrine Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2007533 Progressive Myoclonic Epilepsy (PME) Panel, Sequence Analysis and Exon-Level Deletion/Duplication Additional Technical Information Epilepsy PROG EPIL, seizures, PME, myoclonus, Lafora, Unverricht-Lundborg, neuronal ceroid lipofuscinoses, NCL, PRICKLE1, EPM2A, EPM2B, NHLRC1, CSTB, PPT1, CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, TPP1, MFSD8, CTSD, GeneDx
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
2006332 Exome Sequencing with Symptom-Guided Analysis Exome EXOME SEQ
2006336 Exome Sequencing Symptom-Guided Analysis, Patient Only Exome EXOSEQ PRO
0030192 APC Resistance Profile with Reflex to Factor V Leiden Factor V Leiden APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2001549 Factor V, R2 Mutation Factor V Leiden F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
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
2004920 Familial Adenomatous Polyposis (APC) Deletion and Duplication Familial Adenomatous Polyposis APC DELDUP, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations Familial Adenomatous Polyposis MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing Familial Adenomatous Polyposis MUTYH, FGS, MYH
2006307 MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing Familial Adenomatous Polyposis MUTYH RFLX MYH
0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Familial Dysautonomia IKBKAP, Jewish Genetic Disease
2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) FMF FGS, DNA
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
2014035 Familial Transthyretin Amyloidosis (TTR) Additional Technical Information
GeneReviews
Familial Transthyretin Amyloidosis (TTR)
0051468 Fanconi Anemia Group C, (FANCC), 2 Variants Fanconi Anemia Group C FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
2006069 Febrile Seizures Panel Febrile Seizures FEBRIL PAN
0051752 FG Syndrome, FGS1 (MED12) R961W Mutation FG Syndrome FGS 1, Opitz-Kaveggia, Mental retardatio, developmental delay, macrocephaly, imperforate anus
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
2002662 Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 Freeman-Sheldon Syndrome (MYH3) FSS SEQ, Distal Arthrogryposis Type 2A, Congenital contractures
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
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
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
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations Gastrointestinal Cancer MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing Gastrointestinal Cancer MUTYH, FGS, MYH
2006307 MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing Gastrointestinal Cancer MUTYH RFLX MYH
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication Gastrointestinal Cancer BMPR1A FGA, JPS, SMAD4
2004988 Juvenile Polyposis (BMPR1A) Sequencing Gastrointestinal Cancer BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis
2004984 Juvenile Polyposis Syndrome (BMPR1A) Deletion/Duplication Gastrointestinal Cancer BMPR1A DD, JPS, SMAD4, Juvenile Polyposis
2013449 Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 16 Genes Gastrointestinal Cancer GICAPAN, 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 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Gastrointestinal Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Gastrointestinal Cancer MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Gastrointestinal Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Gastrointestinal Cancer SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information Gastrointestinal Cancer HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
2009302 Li-Fraumeni (TP53) Sequencing Gastrointestinal Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
0051510 Juvenile Polyposis (SMAD4) Sequencing Gastrointestinal Cancer SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2009294 Li-Fraumeni Syndrome (TP53) Deletion/Duplication Gastrointestinal Cancer TP53 DD, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Gastrointestinal Cancer SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Gastrointestinal Cancer STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing Gastrointestinal Cancer STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Gastrointestinal Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
0051438 Gaucher Disease (GBA), 8 Variants Gaucher Disease GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
0051476 Glaucoma (Primary Congenital), CYP1B1 Sequencing Glaucoma, Primary Congenital (CYP1B1) CYP1B1, Cytochrome P4501B1
2011465 GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication GLI3-Related Disorders GLI3 FGA, Greig cephalopolysyndactyly, Pallister-Hall, Pallister Hall, polydactyly
2011470 GLI3-related disorders (GLI3) Sequencing GLI3-Related Disorders GLI3 FGS, Greig cephalopolysyndactyly, Pallister-Hall, Pallister Hall, polydactyly
2011424 GLI3-related Disorders (GLI3) Deletion/Duplication GLI3-Related Disorders GLI3 DD, Greig cephalopolysyndactyly, Pallister-Hall, Pallister Hall, polydactyly
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
2002044 Hearing Loss, Nonsyndromic Mitochondrial DNA 2 Mutations Hearing Loss HL MTDNA, m.1555A>G, m.7445A>G
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Additional Technical Information Hearing Loss GJB6 DEL, Hearing Loss
2008803 Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes) 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
2008800 Expanded Hearing Loss Panel, Sequencing (56 Genes) Hearing Loss EHL SEQ, 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
2008808 Expanded Hearing Loss Panel, Deletion/Duplication (53 Genes) Hearing Loss EHL DD, 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
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
2005792 Hemoglobin Evaluation Reflexive Cascade Hemoglobinopathies HB CASCADE
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
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
2005408 Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations Hemoglobinopathies HPFH
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Hemoglobinopathies HB SCE FE
0050610 Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility Hemoglobinopathies
0049090 Heinz Body Stain Hemoglobinopathies Unstable Hemoglobinopathies, Hemolytic Anemias
2013399 Hemoglobin S, Sickle Solubility Hemoglobinopathies SICKLE
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
2001582 Alpha Globin (HBA1 and HBA2) Sequencing Hemoglobinopathies AG FGS, Hemoglobinopathies
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
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilia A F8 DELDUP, 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
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
2010499 Hemophilia B (F9) Deletion/Duplication Hemophilia B Christmas disease, F9, Factor IX
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
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilias F8 DELDUP, 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
2010499 Hemophilia B (F9) Deletion/Duplication Hemophilias Christmas disease, F9, Factor IX
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) Hereditary Hemochromatosis HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
2012052 Hereditary Hemolytic Anemia Sequencing, 28 Genes Hereditary Hemolytic Anemia 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
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication, 5 Genes Hereditary Hemorrhagic Telangiectasia (HHT) HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2009342 Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing, 5 Genes Hereditary Hemorrhagic Telangiectasia (HHT) HHT SEQ, hereditary hemorrhagic telangiectasia, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2009334 Hereditary Hemorrhagic Telangiectasia (HHT) Deletion/Duplication, 5 Genes Hereditary Hemorrhagic Telangiectasia (HHT) HHT DD, hereditary hemorrhagic telangiectasia
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
0051348 ACVRL1 and ENG Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT DELDUP, hereditary hemorrhagic telangiectasia
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051510 Juvenile Polyposis (SMAD4) Sequencing Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 DD, 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
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Hereditary Non-Polyposis Colon Cancer (HNPCC) BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Hereditary Non-Polyposis Colon Cancer (HNPCC) MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information Hereditary Non-Polyposis Colon Cancer (HNPCC) HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
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
2007113 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes
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
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) Genotyping HLAB27 PCR, IBD
2008863 Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes, Fetal Holoprosencephaly HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008848 Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes Holoprosencephaly HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008853 Holoprosencephaly Panel, Nonsyndromic, Sequencing, 11 Genes Holoprosencephaly HPE SEQ, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
2008845 Holoprosencephaly, Nonsyndromic, Deletion/Duplication, 11 Genes Holoprosencephaly HPE DD, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, and ZIC2
0040018 Huntington Disease (HD) Mutation by PCR Huntington Disease HD, Huntington chorea, CAG trinucleotide repeats, HTT
2011154 Hyper IgM Syndrome Panel, Sequencing (12 Genes) and Deletion/Duplication (10 Genes) Hyper IgM Syndrome HIGM PANEL, AICDA, ATM, BTK, CD40, CD40LG, IKBKG, MRE11A, NBN/NBS1, NFKBIA, PIK3CD, RAG2, UNG, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency
0051367 Hypochondroplasia (FGFR3) 2 Mutations Hypochondroplasia HYPOCH, Skeletal Dysplasias, N540K, c.1620C>A, c.1620C>G
2007883 Filaggrin (FLG) 2 Mutations Ichthyosis Vulgaris FLG, ichthyosis vulgaris, keratosis pilaris, atopic disease, atopic dermatitis, eczema, asthma, profilaggrin, c.1501C>T, R501X, c.2282del4
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
2006344 Inosine Triphosphatase (ITPA) and Interleukin 28 B (IL28B)-Associated Variants, 4 SNPs Additional Technical Information Interleukin 28 B Associated SNP—Genotyping ITPA-IL28B
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs Interleukin 28 B Associated SNP—Genotyping IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication Juvenile Polyposis BMPR1A FGA, JPS, SMAD4
2004988 Juvenile Polyposis (BMPR1A) Sequencing Juvenile Polyposis BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis
2004984 Juvenile Polyposis Syndrome (BMPR1A) Deletion/Duplication Juvenile Polyposis BMPR1A DD, JPS, SMAD4, Juvenile Polyposis
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Juvenile Polyposis SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
0051510 Juvenile Polyposis (SMAD4) Sequencing Juvenile Polyposis SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Juvenile Polyposis SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis
2009306 Kabuki Syndrome (KMT2D) Sequencing Kabuki Syndrome KMT2D FGS, MLL2
0051644 Kell K/k Antigen (KEL) Genotyping Kell Antigen Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
2008347 Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication Legius Syndrome LS FGA, SPRED1
2002945 Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17) Legius Syndrome LS FGS, SPRED1, Neurofibromatosis, LS, NF 1-like
2008373 Legius Syndrome (SPRED1) Deletion/Duplication Legius Syndrome LS DD, SPRED1
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
2009294 Li-Fraumeni Syndrome (TP53) Deletion/Duplication Li-Fraumeni Syndrome TP53 DD, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2004543 LMNA-Related Disorders (LMNA) Sequencing LMNA–Related Disorders LMNA FGS, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, Hutchinson-Gilford progeria, HGPS, Charcot-Marie-Tooth 2B1, CMT2B1, Familial partial lipodystrophy Dunnigan type, FLPD, dilated cardiomyopathy, DCM, mandibulo-acral dysplasia, MAD, atypical Werner,C236 WS, restrictive dermopathy, RD
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication LMNA–Related Disorders LMNA DD, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, dilated cardiomyopathy, DCM
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome LDS FGS, Loeys-Dietz, aortic aneurysm
2002697 TGFBR1 & TGFBR2 Deletion/Duplication Loeys-Dietz Syndrome LDS DELDUP, Loeys-Dietz, aortic aneurysm
2006232 Long QT Syndrome (LQTS) Panel, 12 Genes Long QT Syndrome LQTS PANEL GeneDx
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
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
2005580 Marfan Syndrome (FBN1) Deletion/Duplication Marfan Syndrome and Marfan/FBN1-Related Disorders FBN1 DD
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
2007872 ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing Menkes and Occipital Horn Syndromes ATP7A FGS, Menkes disease, occipital horn syndrome, X-linked cutis laxa, ATP7A-related distal motor neuropathy, MNK
2008443 ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication Menkes and Occipital Horn Syndromes ATP7A DD, Menkes disease, occipital horn syndrome, X-linked cutis laxa, ATP7A-related distal motor neuropathy, MNK
2008831 Metabolic Storage Disorders Panel, Sequencing, 51 Genes Metabolic Storage Disorders STORAGESEQ, AGA, AGL, ARSA, ARSB, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, DNAJC5, ENO3, G6PC, GAA, GALC, GALNS, GBA, GBE1, GLA, GLB1, GM2A, GNPTAB, GNS, GUSB, GYS1, GYS2, HGSNAT, HYAL1, IDS, IDUA, LDHA, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PFKM, PPT1, PYGL, PYGM, SGSH, SLC17A5, SLC37A4, SMPD1, SUMF1, TPP1, glycogenoses, lipidoses, mucopolysaccharidoses, lysosomal transport disorders, oligosaccharidoses
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR) MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information Microsatellite Instability (MSI) MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information Microsatellite Instability (MSI) MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information Microsatellite Instability (MSI) MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2006054 Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication , 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication) Mitochondrial Disorders MT PANEL, Mitochondrial, mitochondria, heteroplasmy, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO, TRMU, Kearns-Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Leigh syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), Pearson syndrome, progressive external ophthalmoplegia (PEO)
2006872 Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication Mitochondrial Disorders MT SEQDD, Mitochondrial, mitochondria, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, Kearns-Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), Leigh syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), Pearson syndrome, progressive external ophthalmoplegia (PEO)
2006878 Mitochondrial Disorders (121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication) Mitochondrial Disorders MT N SQDD, , Mitochondrial, mitochondria, heteroplasmy, mtDNA, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO, TRMU, Leigh syndrome, progressive external ophthalmoplegia (PEO)
2006065 Mitochondrial Disorders (mtDNA) Sequencing Mitochondrial Disorders MT SEQ, Mitochondrial, mitochondria, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, Leber hereditary optic neuropathy (LHON), Leigh syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), progressive external ophthalmoplegia (PEO)
2006050 Mitochondrial Disorders (121 Nuclear Genes) Sequencing Mitochondrial Disorders MT N SQ, Mitochondrial, mitochondria, heteroplasmy, mtDNA, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO , TRMU, Leigh syndrome, progressive external ophthalmoplegia (PEO)
2006061 Mitochondrial Disorders (mtDNA and 119 Nuclear Genes) Deletion/Duplication Mitochondrial Disorders MT DD, Mitochondrial, mitochondria, heteroplasmy, mtDNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN,MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FH, FXN, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RRM2B, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TIMM8A, TK2 , TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1, COQ2, COX4I2, CYCS, FASTKD2, GFER, ISCU, NDUFAF2, NDUFAF5, PDHA1, RARS2, SDHAF1, SUOX, TMEM70, TMPO, TRMU, Kearns-Sayre syndrome (KSS), Pearson syndrome, progressive external ophthalmoplegia (PEO)
0051755 Molar Pregnancy, 16 DNA Markers Molar Pregnancy MOL PREG, Gestational Trophoblastic Disease
0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Mucolipidosis IV MCOLN1, Jewish Genetic, lysosomal
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)
2005346 Multiple Endocrine Neoplasia Type 1 (MEN1) Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1) Multiple endocrine adenomatosis, Wermer, Multiple Endocrine Neoplasias (MEN)
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
2008840 Multiple Epiphyseal Dysplasia Panel, Sequencing and Deletion/Duplication, 6 Genes Multiple Epiphyseal Dysplasia MED PANEL, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, achondrogenesis type Ib, atelosteogenesis type II, diastrophic dysplasia, pseudoachondroplasia
2008837 Multiple Epiphyseal Dysplasia Panel, Sequencing, 6 Genes Multiple Epiphyseal Dysplasia MED SEQ, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, achondrogenesis type Ib, atelosteogenesis type II, diastrophic dysplasia, pseudoachondroplasia
2008834 Multiple Epiphyseal Dysplasia Panel, Deletion/Duplication, 6 Genes Multiple Epiphyseal Dysplasia MED DD, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
2005023 Narcolepsy (HLA-DQB1*06:02) Genotyping Narcolepsy NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep
2007154 Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Neurofibromatosis Type 1
2007159 Neurofibromatosis Type 1 (NF1) Sequencing Neurofibromatosis Type 1
2001952 Neurofibromatosis Type 1 (NF1) Deletion/Duplication Additional Technical Information Neurofibromatosis Type 1
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
2007537 Non-Invasive Prenatal Testing for Fetal Aneuploidy Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, 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 (Panorama) with Microdeletions Non-Invasive Prenatal Testing (Cell-Free DNA) NIPTANEUMD, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, 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
2013142 Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion (Panorama) Additional Technical Information Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT ANEU, Panorama, NIPD, Natera, Ariosa, Sequenom, Harmony, Verinata, Maternity 21, MaterniT21, Verifi, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen
2009077 Non-Invasive Prenatal testing for RhD Genotyping, Fetal Non-Invasive Prenatal Testing (Cell-Free DNA) NIPT RHD, Sequenom, Sequenome
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
2008767 Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant Additional Technical Information Opioid Receptor, Mu OPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC FGA, Urea cycle
2004901 Ornithine Transcarbamylase Deficiency (OTC) Sequencing Ornithine Transcarbamylase Deficiency OTC FGS, Urea cycle
2004892 Ornithine Transcarbamylase Deficiency (OTC) Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC DELDUP, Urea cycle
2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes Ovarian Cancer BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication Ovarian Cancer BRCA FGA, BRACA, HBOC
2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing Ovarian Cancer BRCA FGS, BRACA, HBOC
2011915 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Deletion/Duplication Ovarian Cancer BRCA DD, 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
2010876 Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing Pancreatitis
2002016 Pancreatitis, (PRSS1) Sequencing Pancreatitis PRSS1 FGS, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I
2002012 Pancreatitis, (SPINK1) Sequencing Pancreatitis SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor
2010703 Pancreatitis (CTRC) Sequencing Pancreatitis Idiopathic pancreatitis, CTRC Sequencing
2007376 Periodic Fever Syndromes Sequencing, 7 Genes Periodic Fever Syndromes PRFEVERSEQ, 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)
2002658 Familial Mediterranean Fever (MEFV) Sequencing Periodic Fever Syndromes FMF FGS, DNA
2007366 Periodic Fever Syndromes Deletion/Duplication, 6 Genes Periodic Fever Syndromes PRFEVER DD, 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 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)
2007370 Periodic Fever Syndromes Panel, Sequencing, 7 Genes, and Deletion/Duplication, 6 Genes 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)
2008377 Peutz-Jeghers Syndrome (STK11) Deletion/Duplication Peutz-Jeghers STK11, STK11 DD, hamartomatous polyps, mucocutaneous hypergigmentation
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Peutz-Jeghers STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing Peutz-Jeghers STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation
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
0051308 Platelet Antigen Genotyping Panel Platelet Antigen Genotyping HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051309 Platelet Antigen 1 Genotyping (HPA-1) Platelet Antigen Genotyping HPA1, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051310 Platelet Antigen 2 Genotyping (HPA-2) Platelet Antigen Genotyping HPA2, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051311 Platelet Antigen 3 Genotyping (HPA-3) Platelet Antigen Genotyping HPA3, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051490 Platelet Antigen 4 Genotyping (HPA-4) Platelet Antigen Genotyping HPA4, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051312 Platelet Antigen 5 Genotyping (HPA-5) Platelet Antigen Genotyping HPA5, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051313 Platelet Antigen 6 Genotyping (HPA-6) Platelet Antigen Genotyping HPA6, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051314 Platelet Antigen 15 Genotyping (HPA-15) Platelet Antigen Genotyping HPA15, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
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)
2012246 Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Deletion/Duplication Polycystic Kidney Disease ADPKD DD 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)
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
2011156 Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes) 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
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) Prothrombin (Factor II) PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
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
2002726 PTEN-Related Disorders Deletion/Duplication PTEN-Related Disorders PTENDELDUP, 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
2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication Pulmonary Arterial Hypertension (PAH) BMPR2 FGA, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003410 Pulmonary Arterial Hypertension (BMPR2) Sequencing Pulmonary Arterial Hypertension (PAH) BMPR2 FGS, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003401 Pulmonary Arterial Hypertension (BMPR2) Deletion/Duplication Pulmonary Arterial Hypertension (PAH) BMPR2 DD, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2009345 Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication, Multigene Pulmonary Arterial Hypertension (PAH) PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
2009350 Pulmonary Arterial Hypertension (PAH) Sequencing, Multigene Pulmonary Arterial Hypertension (PAH) PAH SEQ, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication RASA1-Related Disorders RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2002730 RASA1-Related Disorders (RASA1) Sequencing RASA1-Related Disorders RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
2007830 RASA1-Related Disorders (RASA1) Deletion/Duplication RASA1-Related Disorders RASA1 DD, RASA1, CM-AVM, Parkes Weber
2010214 Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes 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
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
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Renal Cancer VHL DELDUP, Brain Tumors, Pheochromocytoma
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes 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
2009294 Li-Fraumeni Syndrome (TP53) Deletion/Duplication Renal Cancer TP53 DD, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Renal Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
2007085 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP PANEL, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1, C2ORF71, CA4, CDHR1, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease
2007091 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP SEQ, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1, C2ORF71, CA4, CDHR1, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease
2007095 Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Deletion/Duplication, 53 Genes Retinitis Pigmentosa/Leber Congenital Amaurosis RP DD, LCA, Stargardt disease, cone-rod dystrophy, retinopathy, Nephronophthisis, Coats-like vasculopathy, preserved para-arteriolar RPE (PPRPE), S-cone syndrome, adult vitelliform MD, Peripapillary atrophy, macular atrophy, Oguchi, ABCA4, AIPL1 ,BEST1, C2ORF71, CA4, CDHR1, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, , SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, adult vitelliform MD, Coats-like vasculopathy, cone-rod dystrophy, macular atrophy, Nephronophthisis, Oguchi, Peripapillary atrophy, preserved para-arteriolar RPE (PPRPE), retinopathy, S-cone syndrome, Stargardt disease
0051614 Rett Syndrome (MECP2), Full Gene Analysis Rett Syndrome RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051378 Rett Syndrome (MECP2), Full Gene Sequencing Rett Syndrome RETT FGS, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051618 Rett Syndrome (MECP2), Deletion/Duplication Additional Technical Information Rett Syndrome RETTDELDUP, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
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
0050421 RhCc Antigen (RHCE) Genotyping Rh Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) Genotyping Rh Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
2009077 Non-Invasive Prenatal testing for RhD Genotyping, Fetal Rh Genotyping NIPT RHD, Sequenom, Sequenome
2006240 Schwachman-Diamond Syndrome (SBDS) Sequencing Schwachman-Diamond Syndrome SBDS FGS, GeneDx
2006242 Short QT Syndrome Panel, 3 Genes Short QT Syndrome SQTS PANEL GeneDx
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Sickle Cell Anemia HB SCE FE
2012010 Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), 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 (39 Genes) and Deletion/Duplication (36 Genes) 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
2012018 Skeletal Dysplasia Panel, Sequencing, 39 Genes Skeletal Dysplasia SKEL SEQ, 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
2012007 Skeletal Dysplasia Panel, Deletion/Duplication, 36 Genes Skeletal Dysplasia SKEL DD, 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, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LEPRE1, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SCL35D1, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TTC21B, WDR19, WDR35
2010209 Melanoma Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 6 Genes Skin Cancer MELCAPAN, BAP1, CDK4, CDKN2A, PTEN, RB1, TP53, melanoma, melanoma of the eye BAP1, CDK4, CDKN2A, PTEN, RB1, TP53
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Skin Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Skin Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009302 Li-Fraumeni (TP53) Sequencing Skin Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009294 Li-Fraumeni Syndrome (TP53) Deletion/Duplication Skin Cancer TP53 DD, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes Skin Cancer CANCER DD, ALK, APC, BAP1, BMPR1A, CDH1, CDK4, CDKN1B, CDKN2A, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUYTH, NF2, PHOX2B, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, 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
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
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
2008426 Statin Sensitivity (SLCO1B1), 1 Variant Statin Sensitivity SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1
2007569 TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing TACI-Associated Common Variable Immunodeficiency TACI FGS, CVID/CVID2; Immunoglobulin A (IgA) deficiency; Selective IgA deficiency-2 (IGAD2); Tumor necrosis factor receptor superfamily, member 13B; Antibody deficiency due to TACI defect; Hypogammaglobulinemia due to TACI deficiency
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
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
2012233 Thiopurine Methyltransferase (TPMT) Genotyping, 4 Variants Additional Technical Information Thiopurine Methyltransferase TPMT DNA 6-mercaptopurine 6-MP 6MP toxicity 6-thioguanine 6-TG 6TG AZA toxicity Azathioprine S-adenosyl-L-methionine genotype Thioguanine Thiopurine S-Methyltransferase genotype Thiopurine TPMT mutation TPMT gene TPMT genetics
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
0050547 Twin Zygosity (16 markers) Twin Zygosity Testing TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 Genotyping UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes 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)
2007380 Vascular Malformations Deletion/Duplication, 14 Genes Vascular Malformation Syndromes 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 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)
2007390 Vascular Malformations Sequencing, 14 Genes Vascular Malformation Syndromes 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 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)
2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication Vascular Malformation Syndromes RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2002730 RASA1-Related Disorders (RASA1) Sequencing Vascular Malformation Syndromes RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
2007830 RASA1-Related Disorders (RASA1) Deletion/Duplication Vascular Malformation Syndromes RASA1 DD, RASA1, CM-AVM, Parkes Weber
2009326 Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes Vascular Malformation Syndromes CCM PANEL, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
2009331 Cerebral Cavernous Malformation (CCM) Sequencing, 3 Genes Vascular Malformation Syndromes CCM SEQ, Cerebral Cavernous Malformation, CCM1/KRIT1, CCM2, CCM3/PDCD10
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Vascular Malformation Syndromes CCM DELDUP, Cerebral Cavernous Malformation
—see Cerebral Cavernous Malformation (CCM) Vascular Malformation Syndromes
—see Hereditary Hemorrhagic Telangiectasia (HHT) Vascular Malformation Syndromes
—see RASA1-Related Disorders Vascular Malformation Syndromes
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication, 5 Genes Vascular Malformation Syndromes HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2009342 Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing, 5 Genes Vascular Malformation Syndromes HHT SEQ, hereditary hemorrhagic telangiectasia, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
2009334 Hereditary Hemorrhagic Telangiectasia (HHT) Deletion/Duplication, 5 Genes Vascular Malformation Syndromes HHT DD, hereditary hemorrhagic telangiectasia
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
0051348 ACVRL1 and ENG Deletion/Duplication Vascular Malformation Syndromes HHT DELDUP, hereditary hemorrhagic telangiectasia
2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing Vascular Malformation Syndromes BMP9 FGS, capillary malformations, HHT, HHT5
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
2004208 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD DD
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
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia VHL DELDUP, Brain Tumors, Pheochromocytoma
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
2012772 Warfarin Sensitivity, CYP2C9 & VKORC1, 3 Variants Additional Technical Information Warfarin Genotyping WARF GENO, Warfarin metabolism, Coumadin, Pharmacogenetics (PGx), cytochrome P450 2C9, CYP2C9*2, CYP2C9*3, c.-1639G>A
2010716 Wilson Disease (ATP7B) Sequencing Wilson Disease
2006352 X-Chromosome Inactivation Analysis Additional Technical Information X-Chromosome Inactivation XCI
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
2011880 Adrenoleukodystrophy, X-Linked (ABCD1) Deletion/Duplication X-Linked Adrenoleukodystrophy ABCD1 DD, XLALD,XL-ALD
2001778 Y Chromosome Microdeletion Y Chromosome Microdeletion Y CHROM, Male Infertility, PCR