Tests by Disease

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

Disease Test Genes
A1AT deficiency Alpha-1-Antitrypsin Deficiency SERPINA1
Alagille Syndrome Alagille Syndrome Testing 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 (ARVD) ARVDNext DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2
Arrhythmogenic right ventricular dysplasia (ARVD) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Arrhythmogenic right ventricular dysplasia (ARVD) CMNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2
Arrhythmogenic right ventricular dysplasia (ARVD) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4
Arterial tortuosity syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Arteriohepatic Dysplasia Alagille Syndrome Testing JAG1
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
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
BRCA1/2 BRCA1 AND BRCA2 BRCA1, BRCA2
Breast Cancer BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2
Breast Cancer BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Breast Cancer CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Breast Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Breast Cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2
Breast Cancer PALB2 Gene Sequence and Deletion/Duplication PALB2
Brugada syndrome (BrS) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Brugada syndrome (BrS) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4
Canavan Disease Canavan Disease ASPA
Canavan Disease Canavan Gene Sequence and Deletion/Duplication Analysis ASPA
Catecholaminergic polymorphic ventricular tachycardia (CPVT) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Catecholaminergic polymorphic ventricular tachycardia (CPVT) CPVTNext RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN
Catecholaminergic polymorphic ventricular tachycardia (CPVT) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4
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
Colorectal Cancer CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Colorectal Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Colorectal cancer ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53
Congenital Central Hypoventilation Syndrome Congenital Central Hypoventilation Syndrome PHOX2B
Congenital contractural arachnodactyly (CCA or Beals syndrome) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Congenital heart defects CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Congenital lipomatosis of the pancreas Shwachman-Diamond Syndrome SBDS
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 DCMNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP
Dilated cardiomyopathy (DCM) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Dilated cardiomyopathy (DCM) CMNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2
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
Ehlers-Danlos syndrome, classic type (EDS I and II) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Ehlers-Danlos syndrome, kyphoscoliosis form (EDS VI) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Ehlers-Danlos syndrome, vascular type (EDS IV) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Exome ExomeNext
Familial Adenomatous Polyposis (FAP) APC Analysis APC
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 pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Familial pulmonary fibrosis Telomere-Related Pulmonary Fibrosis TERC, TERT
Familial thoracic aortic aneurysm and dissection (TAAD) TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
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 Ovarian Cancer (HBOC) BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2
Hereditary Breast Ovarian Cancer (HBOC) BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Hereditary Breast Ovarian Cancer (HBOC) CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Hereditary Breast Ovarian Cancer (HBOC) GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Hereditary Breast Ovarian Cancer (HBOC) OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2
Hereditary breast-ovarian cancer syndrome BRCA1 AND BRCA2 BRCA1, BRCA2
Hereditary Cancer BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2
Hereditary Cancer BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Hereditary Cancer CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Hereditary Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Hereditary Cancer ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53
Hereditary Cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Hereditary Cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2
Hereditary Cancer PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Hereditary Cancer PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
Hereditary Cancer RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, FH, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA
Hereditary Diffuse Gastric Cancer Hereditary Diffuse Gastric Cancer CDH1
Hereditary Hemorrhagic Telangiectasia HHT Sequencing, Del/Dup & SMAD4-Related HHT ACVRL1, ENG, SMAD4
Hereditary pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Hereditary Paraganglioma-Pheochromocytoma Syndrome PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
HHT, SMAD4-Related Juvenile Polyposis AMPLIFIED™ BMPR1A, SMAD4
Hirschsprung Disease, RET-Related RET-Related Hirschsprung Disease RET
HNPCC (Hereditary Non-Polyposis Colorectal Cancer) LYNCH SYNDROME EPCAM, MLH1, MSH2, MSH6, PMS2
Homocystinuria caused by cystathionine beta-synthase deficiency TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Hunter Syndrome Hunter Syndrome IDS
Hypertrophic cardiomyopathy (HCM) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Hypertrophic cardiomyopathy (HCM) CMNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2
Hypertrophic cardiomyopathy (HCM) HCMFirst and HCMNext ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11
Idiopathic pulmonary fibrosis Telomere-Related Pulmonary Fibrosis TERC, TERT
Idiopathic sporadic pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Immotile cilia syndrome (ICS) PRIMARY CILIARY DYSKINESIA TESTING 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
Inherited arrhythmias/channelopathies RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4
Interstitial lung disease, pediatric and familial Surfactant Dysfunction Testing 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 syndrome PRIMARY CILIARY DYSKINESIA TESTING CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3
Kidney Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Kidney Cancer RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, FH, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA
Left ventricular non-compaction (LVNC) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Left ventricular non-compaction (LVNC) CMNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2
Left ventricular non-compaction (LVNC) LVNCNext ACTC1, TNNT2, TPM1, LDB3/ZASP
Legius syndrome Neurofibromatosis Type 1 and Legius Syndrome NF1, SPRED1
LEOPARD Syndrome LEOPARD Syndrome PTPN11, RAF1
Li-Fraumeni Syndrome Li-Fraumeni Syndrome (TP53 AMPLIFIED) TP53
Loeys-Dietz syndrome, types 1-4 TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Long QT syndrome (LQTS) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Long QT syndrome (LQTS) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4
Louis-Barr syndrome ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility ATM
Lujan-Fryns syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Lynch Syndrome CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Lynch Syndrome ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53
Lynch syndrome GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Lynch syndrome LYNCH SYNDROME EPCAM, MLH1, MSH2, MSH6, PMS2
Lynch Syndrome OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2
Malignant Melanoma CDKN2A and CDK4
Marfan syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Maturity-Onset Diabetes of the Young (MODY) Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
Melanoma CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Melanoma CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
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 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
Myotonic dystrophy, type 2 Myotonic dystrophy, type 2 CNBP
Neonatal respiratory failure Surfactant Dysfunction Testing 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 KRAS, PTPN11, RAF1, SOS1
Osler-Weber-Rendu HHT Sequencing, Del/Dup & SMAD4-Related HHT ACVRL1, ENG, SMAD4
Ovarian Cancer CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Ovarian Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Ovarian Cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Ovarian Cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2
Pancreatic Cancer CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Pancreatic Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Pancreatic Cancer PALB2 Gene Sequence and Deletion/Duplication PALB2
Pancreatic Cancer PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Paraganglioma CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Paraganglioma 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 CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Pheochromocytoma Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127
Pheochromocytoma 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
Polyposis CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Polyposis ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53
Postnatal respiratory distress Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Primary ciliary dyskinesia (PCD) PRIMARY CILIARY DYSKINESIA TESTING 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
RAD51D - associated cancer risk RAD51D
RAD51D - associated cancer risk RAD51D Associated Cancer Risk RAD51D
Recurrent idiopathic pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Renal Cell Carcinoma RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, FH, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA
Restrictive cardiomyopathy CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Restrictive cardiomyopathy CMNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2
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) CardioNext ABCC9, BAG3, DES, DMD, EYA4, FKTN, LAMA4, LMNA, RBM20, SCN5A, TMPO, TTN, TXNRD2, ACTN2, ANKRD1, CSRP3, LAMP2, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, TCAP, TNNC1, TNNI3, VCL, RAF1, ACTC1, TNNT2, TPM1, LDB3/ZASP, FXN, GLA, JPH2, MYL2, MYL3, MYOZ2, PTPN11, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, CRYAB, EMD, GATAD1, TTR, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4, GATA4, JAG1, KCNJ5, NKX2.5, SCN2B, TAZ, TBX1, TBX5, TBX20
Short QT syndrome (SQTS) RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4
Shprintzen-Goldberg syndrome TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Shwachman-Bodian syndrome Shwachman-Diamond Syndrome SBDS
Shwachman-Bodian-Diamond Syndrome Shwachman-Diamond Syndrome SBDS
Shwachman-Diamond Syndrome (SDS) Shwachman-Diamond Syndrome SBDS
Shwachman’s syndrome 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 RhythmFirst and RhythmNext LMNA, SCN5A, DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN4B, SCN3B, SNTA1, TRPM4
Surfactant Dysfunction Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Syndromic Bile Duct Paucity Alagille Syndrome Testing JAG1
Tay-Sachs Disease Tay-Sachs Disease HEXA
Tay-Sachs Disease Tay-Sachs Plus HEXA
Telomere-related pulmonary fibrosis Telomere-Related Pulmonary Fibrosis TERC, TERT
Thrombophilia (Factor V-Leiden, Prothrombin-Factor II G20210A, MTHFR C677T, and MTHFR A1298C) Factor V-Leiden Thrombophilia FlexPanel F5, F2, MTHFR
Transthyretin Amyloidosis Transthyretin Amyloidosis TTR
Turcot Syndrome APC Analysis APC
Turcot syndrome LYNCH SYNDROME EPCAM, MLH1, MSH2, MSH6, PMS2
Typical and Atypical Rett Syndrome Typical and Atypical Rett Syndrome
Uterine Cancer CancerNext ATM, APC, BARD1, BRIP1, BRCA1, BRCA2, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, MRE11A, MUTYH, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, SMAD4, TP53, PALB2
Uterine Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, 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
Uterine Cancer GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Uterine Cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2
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 FLNA/FLN1
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
X-Linked Mental Retardation XLMR Next-Gen SuperPanel 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, OCRL, OFD1, 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
X-linked periventricular nodular heterotopia, EDS variant TAADNEXT ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA/FLN1, MED12/HOPA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2