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
Aminoacylase 2 deficiency Canavan Disease Testing ASPA
Angelman-Like Syndrome Christianson Syndrome (Angelman-Like Syndrome) 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
ASPA deficiency Canavan Disease Testing ASPA
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
Atypical Rett Syndrome Rett Syndrome (including atypical Rett syndrome) MECP2, CDKL5, FOXG1, MEF2C
Autism Spectrum Disorder Fragile X DNA Analysis and Chromosome Microarray
Autism Spectrum Disorder Microarrays: SNP+CGH Array and 180K Oligo Array
Autism spectrum disorder with macrocephaly PTEN-Related Disorders PTEN
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 PTEN
Beta Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Birt-Hogg-Dubé syndrome (BHDS) Birt-Hogg-Dubé Syndrome FLCN
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, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Breast Cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Breast Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
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, SMARCA4
Breast Cancer PALB2 Gene Sequence and Deletion/Duplication PALB2
Brugada Syndrome (BrS) Brugada Syndrome (BrS)
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 Testing 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 testing CHD7
CHEK2-Related Cancer CHEK2-Related Cancer CHEK2
Christianson Syndrome Christianson Syndrome (Angelman-Like Syndrome) SLC9A6
Colon Cancer Adenomatous Polyposis APC, MUTYH
Colorectal Cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Colorectal Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Colorectal cancer ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, 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 PTEN
Cutaneous Malignant Melanoma Syndrome CDKN2A and CDK4 Testing CDKN2A, CDK4
Cystic fibrosis Cystic Fibrosis Testing CFTR
Developmental Delay Fragile X DNA Analysis and Chromosome Microarray
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
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 Testing CDKN2A, 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-Associated Disorders FMR1
Fragile X-associated Primary Ovarian Insufficiency Fragile X-Associated Disorders FMR1
Fragile X-associated Tremor/Ataxia Syndrome Fragile X-Associated Disorders FMR1
FRAXE Intellectual Disability FRAXE (FMR2) DNA Analysis FMR2
Gardner Syndrome APC Analysis APC
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, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Hereditary Breast Ovarian Cancer (HBOC) CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
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, SMARCA4
Hereditary breast-ovarian cancer 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, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Hereditary Cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Hereditary Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Hereditary Cancer ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, 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, SMARCA4
Hereditary Cancer PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Hereditary Cancer PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Hereditary Cancer RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA, FH, BAP1
Hereditary Diffuse Gastric Cancer Hereditary Diffuse Gastric Cancer CDH1
Hereditary Hemorrhagic Telangiectasia HHT Sequencing, Del/Dup & SMAD4-Related HHT
Hereditary hemorrhagic telangiectasia (HHT) Hereditary Hemorrhagic Telangiectasia (HHT) Testing ACVRL1, ENG, SMAD4, GDF2, RASA1
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hereditary Leiomyomatosis and Renal Cell Cancer FH
Hereditary pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Hereditary Paraganglioma-Pheochromocytoma Syndrome PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
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, NME8
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
Intellectual Disability Fragile X DNA Analysis and Chromosome Microarray
Intellectual Disability Microarrays: SNP+CGH Array and 180K Oligo Array
Interstitial lung disease, pediatric and familial Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Juvenile Polyposis (SMAD4-Related) HHT Sequencing, Del/Dup & SMAD4-Related HHT
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, NME8
Kidney cancer Birt-Hogg-Dubé Syndrome FLCN
Kidney Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Kidney cancer Hereditary Leiomyomatosis and Renal Cell Cancer FH
Kidney Cancer RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA, FH, BAP1
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 Legius syndrome SPRED1
Leiomyoma, Multiple Cutaneous (MCL) Hereditary Leiomyomatosis and Renal Cell Cancer FH
Leiomyomatosis and Renal Cell Cancer (LRCC) Hereditary Leiomyomatosis and Renal Cell Cancer FH
LEOPARD syndrome Noonan Syndrome with Multiple Lentigines 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) Long QT Syndrome (LQTS)
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 APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Lynch Syndrome ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, 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, SMARCA4
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 APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Melanoma CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Melanoma CDKN2A and CDK4 Testing CDKN2A, CDK4
Melanoma-Pancreatic Cancer Syndrome (M-PCS) CDKN2A and CDK4 Testing CDKN2A, CDK4
MEN2A (Sipple Syndrome) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
MEN2B (Mucosal Neuroma Syndrome) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
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 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
Multiple lentigines syndrome Noonan Syndrome with Multiple Lentigines PTPN11, RAF1
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 FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Neurofibromatosis 1 Neurofibromatosis 1 (NF1) NF1
Nevoid basal cell-carcinoma syndrome (NBCCS) PTCH1/Nevoid Basal Cell-Carcinoma Syndrome PTCH1
Noonan Syndrome Noonan Syndrome KRAS, PTPN11, RAF1, SOS1
Noonan syndrome with multiple lentigines (NSML) Noonan Syndrome with Multiple Lentigines PTPN11, RAF1
Osler-Weber-Rendu HHT Sequencing, Del/Dup & SMAD4-Related HHT
Osler-Weber-Rendu syndrome Hereditary Hemorrhagic Telangiectasia (HHT) Testing ACVRL1, ENG, SMAD4, GDF2, RASA1
Ovarian Cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Ovarian Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
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, SMARCA4
Pancreatic Cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Pancreatic Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Pancreatic cancer CDKN2A and CDK4 Testing CDKN2A, CDK4
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, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Paraganglioma PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
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, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Pheochromocytoma Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127
Pheochromocytoma PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome DICER1
Pneumothorax, Primary Spontaneous (PSP) Birt-Hogg-Dubé Syndrome FLCN
Polyposis CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Polyposis ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, 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, NME8
Proteus syndrome PTEN-Related Disorders PTEN
PTEN Hamartoma Tumor syndrome (PHTS) PTEN-Related Disorders PTEN
PTEN-Related Disorders PTEN-Related Disorders 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, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA, FH, BAP1
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 Rett Syndrome (including atypical Rett syndrome) MECP2, CDKL5, FOXG1, MEF2C
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 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
Transthyretin Amyloidosis Transthyretin Amyloidosis TTR
Tuberous sclerosis complex (TSC) Tuberous Sclerosis Complex TSC1, TSC2
Turcot Syndrome APC Analysis APC
Turcot syndrome Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Uterine Cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Uterine Cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, 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, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
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, SMARCA4
Van Bogaert-Bertrand syndrome Canavan Disease Testing ASPA
von Hipple-Lindau (VHL) disease Von Hippel-Lindau Disease VHL
von Recklinghausen disease Neurofibromatosis 1 (NF1) NF1
Wilson Disease Wilson Disease ATP7B
X-Linked Intellectual Disability Fragile X-Associated Disorders FMR1
X-Linked Intellectual Disability FRAXE (FMR2) DNA Analysis FMR2
X-Linked Intellectual Disability XLID Next-Gen Panel 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 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