Tests by Disease

Ambry Genetics has cataloged all of our tests and organized them below by disease name. The comprehensive listing of tests by disease is organized in alphabetical order.

Disease Test Genes
Alagille Syndrome Alagille AMPLIFIED™ JAG1
Alpha-1-Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency SERPINA1
Angelman Syndrome - like CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) CDKL5
Angelman-like Syndrome, X-Linked Angelman-like Syndrome, X-Linked SLC9A6
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Cardiomyopathy Panels ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, ILK, JPH2, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Ataxia-telangiectasia ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility ATM
ATM-breast cancer susceptibility ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility ATM
Attenuated FAP (AFAP) APC Analysis APC
Autism / Autism spectrum disorder PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN
Autism Spectrum Disorders Fragile X, 180K Oligo Array & SNP+CGH Array
Autism/Autism Spectrum Disorder CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) CDKL5
Autism/Autism Spectrum Disorder Microarrays: SNP+CGH Array and 180K Oligo Array
Autonomic Nervous System Tumors PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
Autosomal Dominant Type II Diabetes Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
Bannayan-Riley-Ruvalcaba syndrome PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN
Beta Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Biotinidase Deficiency Biotinidase Deficiency BTD
BRCA1/2 BRCA1 AND BRCA2 BRCA1, BRCA2
Brugada syndrome (Brugada) Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Canavan Disease Canavan Disease ASPA
Canavan Disease Canavan Gene Sequence and Deletion/Duplication Analysis ASPA
Cancer, Breast BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2
Cancer, Breast BreastNext ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, TP53, BRCA1, BRCA2, NF1, RAD51D, PALB2
Cancer, Breast, Colon, Uterine, Ovarian, Other CancerNext ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4, BRCA1, BRCA2, NF1, RAD51D, PALB2
Cancer, Breast, Colon, Uterine, Ovarian, Renal, Pancreatic, Paraganglioma, Melanoma, Other Hereditary Cancer Syndromes CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CHEK2, EPCAM, FH, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2
Cancer, Colon ColoNext CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4
Cancer, ovarian, and uterine GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Cancer, Ovarian, Breast Uterine OvaNext ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, BRCA1, BRCA2, NF1, RAD51D, PALB2
Cancer, Pancreas PancNext APC, ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Cancer, Renal RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, FH, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA
Cardiac channelopathies Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Cardiovascular Disorders Pan Cardio Panel ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, GATA4, GPD1L, ILK, JAG1, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2.5, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TBX1, TBX5, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Catecholaminergic polymorphic ventricular tachycardia (CPVT) Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
CHARGE Syndrome CHARGE Syndrome CHD7
CHEK2-Related Cancer CHEK2-Related Cancer CHEK2
Chromosomal Microarray Microarrays: SNP+CGH Array and 180K Oligo Array
Colon Cancer Adenomatous Polyposis APC, MUTYH
Congenital Central Hypoventilation Syndrome Congenital Central Hypoventilation Syndrome PHOX2B
Cowden Syndrome PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN
Cutaneous Malignant Melanoma Syndrome CDKN2A and CDK4
Cystic Fibrosis Cystic Fibrosis Testing CFTR
Developmental Delay Fragile X, 180K Oligo Array & SNP+CGH Array
Developmental Delay Microarrays: SNP+CGH Array and 180K Oligo Array
Diamond-Blackfan Anemia Diamond-Blackfan Anemia RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPL19, RPL26
DICER1 Syndrome Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome DICER1
Dilated Cardiomyopathy (DCM) Cardiomyopathy Panels ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, ILK, JPH2, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Dyskeratosis Congenita Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53
Dysmorphic Features Fragile X, 180K Oligo Array & SNP+CGH Array
Dysmorphism Microarrays: SNP+CGH Array and 180K Oligo Array
Factor V-Leiden Thrombophilia FlexPanel F5, F2, MTHFR
Familial Adenomatous Polyposis (FAP) APC Analysis APC
Familial Aortic Aneurysm (FAA) Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2
Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) CDKN2A and CDK4
Familial Hypercholesterolemia Familial Hypercholesterolemia APOB, LDLR, PCSK9
Familial Mediterranean Fever Familial Mediterranean Fever MEFV
Familial Medullary Thyroid Carcinoma (FMTC) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
Familial Pancreatic Cancer PancNext APC, ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Fanconi anemia PALB2 Gene Sequence and Deletion/Duplication PALB2
Fragile X Syndrome Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) FMR1
FRAXE Intellectual Disability FRAXE (FMR2) DNA Analysis FMR2
Gardner Syndrome APC Analysis APC
Gaucher Disease Gaucher Disease GBA
Gaucher Disease Gaucher Disease GBA
Gorlin syndrome PTCH1/Nevoid Basal Cell-Carcinoma Syndrome PTCH1
HBOC BRCA1 AND BRCA2 BRCA1, BRCA2
Hereditary Angioedema HAE AMPLIFIED (SERPING1) SERPING1
Hereditary Breast Cancer BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2
Hereditary Breast Cancer BreastNext ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, TP53, BRCA1, BRCA2, NF1, RAD51D, PALB2
Hereditary Breast, Ovarian, and/or Uterine Cancer OvaNext ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, BRCA1, BRCA2, NF1, RAD51D, PALB2
Hereditary breast-ovarian cancer syndrome BRCA1 AND BRCA2 BRCA1, BRCA2
Hereditary Cancer Syndromes CancerNext ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4, BRCA1, BRCA2, NF1, RAD51D, PALB2
Hereditary Colon Cancer ColoNext CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4
Hereditary Diffuse Gastric Cancer Hereditary Diffuse Gastric Cancer CDH1
Hereditary Hemorrhagic Telangiectasia HHT Sequencing, Del/Dup & SMAD4-Related HHT ACVRL1, ENG, SMAD4
Hereditary ovarian cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Hereditary Pancreatic Cancer PancNext APC, ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Hereditary Paraganglioma-Pheochromocytoma Syndrome PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
Hereditary Renal Cancer RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, FH, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA
Hereditary uterine cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
HHT, SMAD4-Related Juvenile Polyposis AMPLIFIED™ BMPR1A, SMAD4
Hirschsprung Disease, RET-Related RET-Related Hirschsprung Disease RET
HNPCC (Hereditary Non-Polyposis Colon Cancer) LYNCH SYNDROME/HNPCC DNA ANALYSIS EPCAM, MLH1, MSH2, MSH6, PMS2
Hunter Syndrome Hunter Syndrome IDS
Hypertrophic Cardiomyopathy (HCM) Cardiomyopathy Panels ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, ILK, JPH2, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Immotile Cilia Syndrome (ICS) Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3
Infantile Spasms, CDKL5-Related CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) CDKL5
Interstitial Lung Disease, Pediatric and Familial Surfactant Panel (SFTPB, SFTPC, ABCA3) ABCA3, SFTPB, SFTPC
Juvenile Polyposis (SMAD4-Related) HHT Sequencing, Del/Dup & SMAD4-Related HHT ACVRL1, ENG, SMAD4
Juvenile Polyposis Syndrome (JPS) Juvenile Polyposis AMPLIFIED™ BMPR1A, SMAD4
Kartagener's Syndrome Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3
Laminopathies Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Legius syndrome Neurofibromatosis Type 1 and Legius Syndrome NF1, SPRED1
LEOPARD Syndrome LEOPARD Syndrome PTPN11, RAF1
LEOPARD Syndrome Noonan Syndrome and Noonan/LEOPARD Syndrome KRAS, PTPN11, RAF1, SOS1
Li-Fraumeni Syndrome Li-Fraumeni Syndrome (TP53 AMPLIFIED) TP53
LMNA- related conduction system disease Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
LongQT syndrome (LQTS) Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Louis-Barr syndrome ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility ATM
Lynch syndrome LYNCH SYNDROME/HNPCC DNA ANALYSIS EPCAM, MLH1, MSH2, MSH6, PMS2
Malignant Melanoma CDKN2A and CDK4
Marfan Syndrome Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2
Maturity-Onset Diabetes of the Young (MODY) Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
MEN2A (Sipple Syndrome) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
MEN2B (Mucosal Neuroma Syndrome) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
Mental Retardation Microarrays: SNP+CGH Array and 180K Oligo Array
Monogenic Type II Diabetes Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
Mucopolysaccharidosis Type II (MPSII) Hunter Syndrome IDS
Muir-Torre syndrome LYNCH SYNDROME/HNPCC DNA ANALYSIS EPCAM, MLH1, MSH2, MSH6, PMS2
Multiple Congenital Anomalies Fragile X, 180K Oligo Array & SNP+CGH Array
Multiple Congenital Anomalies Microarrays: SNP+CGH Array and 180K Oligo Array
Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type1 (MEN1) MEN1
Multiple Endocrine Neoplasia Type 2 (MEN2) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
MUTYH-associated polyposis (MAP) MUTYH-associated Polypsis (MAP) MUTYH
Neonatal Respiratory Failure Surfactant Panel (SFTPB, SFTPC, ABCA3) ABCA3, SFTPB, SFTPC
Neuroendocrine Tumors PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
Neurofibromatosis type 1 Neurofibromatosis Type 1 and Legius Syndrome NF1, SPRED1
Neurofibromatosis type 1-like syndrome Neurofibromatosis Type 1 and Legius Syndrome NF1, SPRED1
Nevoid basal cell-carcinoma syndrome (NBCCS) PTCH1/Nevoid Basal Cell-Carcinoma Syndrome PTCH1
Noonan Syndrome Noonan Syndrome and Noonan/LEOPARD Syndrome KRAS, PTPN11, RAF1, SOS1
Osler-Weber-Rendu HHT Sequencing, Del/Dup & SMAD4-Related HHT ACVRL1, ENG, SMAD4
Pancreatic Adenocarcinoma PancNext APC, ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Pancreatitis Pancreatitis Amplified (CFTR, PRSS1, SPINK1 with CFTR del/dup) PRSS1, SPINK1, CFTR
Pancreatitis Pancreatitis Panel (PRSS1, SPINK1, CFTR) PRSS1, SPINK1, CFTR
Pancreatitis Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence) PRSS1, SPINK1, CFTR, CTRC
Paraganglioma(s) PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127
Peutz-Jeghers Syndrome Peutz-Jeghers AMPLIFIED™ STK11
Pheochromocytoma Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127
Pheochromocytoma(s) PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome DICER1
Postnatal Respiratory Distress (chronic Surfactant Panel (SFTPB, SFTPC, ABCA3) ABCA3, SFTPB, SFTPC
Primary Ciliary Dyskinesia (PCD) Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3
Proteus syndrome PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN
PTEN Hamartoma Tumor syndrome (PHTS) PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN
PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN
Pulmonary Fibrosis, Idiopathic Idiopathic Pulmonary Fibrosis (IPF Telomerase) TERC, TERT
RAD51D - associated cancer risk RAD51D
RAD51D - associated cancer risk RAD51D Associated Cancer Risk RAD51D
Renal Cell Carcinoma RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, FH, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA
Retinoblastoma Retinoblastoma RB1
Rett Syndrome Typical and Atypical Rett Syndrome
Rett Syndrome, MECP2-negative CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) CDKL5
SH2D1A-Related X-linked lymphoproliferative disease (XLP) SH2D1A-Related X-linked lymphoproliferative disease SH2D1A
Short QT syndrome (SQTS) Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Shwachman-Diamond Syndrome (SDS) Shwachman-Diamond Syndrome SBDS
Sickle Cell Anemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Sickle-Beta-Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Smith-Lemli-Opitz Syndrome, SLO Smith-Lemli-Opitz Syndrome (SLOS) DHCR7
Sudden cardiac arrest (SCA) Arrhythmia Panels AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Surfactant Dysfunction ABCA3-Related Surfactant Dysfunction ABCA3
Surfactant Dysfunction Surfactant Panel (SFTPB, SFTPC, ABCA3) ABCA3, SFTPB, SFTPC
Tay-Sachs Disease Tay-Sachs Disease HEXA
Tay-Sachs Disease Tay-Sachs Plus HEXA
Thoracic Aortic Aneurysm and Dissection (TAAD) Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2
Thrombophilia (Factor V-Leiden, Prothrombin-Factor II G20210A, MTHFR C677T, and MTHFR A1298C) Thrombophilia FlexPanel F5, F2, MTHFR
Transthyretin Amyloidosis Transthyretin Amyloidosis TTR
Turcot Syndrome APC Analysis APC
Turcot syndrome LYNCH SYNDROME/HNPCC DNA ANALYSIS EPCAM, MLH1, MSH2, MSH6, PMS2
Typical and Atypical Rett Syndrome Typical and Atypical Rett Syndrome
Von Hippel-Lindau Disease Von Hippel-Lindau Disease VHL
Von Recklinghausen disease Neurofibromatosis Type 1 and Legius Syndrome NF1, SPRED1
Wilson Disease Wilson Disease ATP7B
X-Linked Intellectual Disabilities CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) CDKL5
X-Linked Intellectual Disabilities Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) FMR1
X-Linked Intellectual Disabilities FRAXE (FMR2) DNA Analysis FMR2
X-linked Intellectual Disability Fragile X, 180K Oligo Array & SNP+CGH Array
X-Linked Intellectual Disability Targeted XLID Gene Analysis
X-Linked Intellectual Disability XLID Next-Gen Panel (formerly known as XLMR) ABCD1, ACSL4/FACL4, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX/XNP/XH2, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, FANCB, FGD1, FLNA/FLN1, FMR1, FTSJ1, GDI1, GJB1/CMTX1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10/HADH2, HUWE1, IDS, IL1RAPL1, KDM5C/JARID1C/SMCX, KIAA2022, L1CAM, LAMP2, MAOA, MECP2, MED12/HOPA, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4/NLGN4X, UPF3B, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, RPL10, PRPS1, RPS6KA3/RSK2, SHROOM4/KIAA1202, SLC9A6, SLC16A2/MCT8, SMC1A/SMC1L1, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7/TM4SF2, UBE2A, ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711