Tests by Specialty- Cardio

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

Disease Test Genes
Alagille Syndrome, Arteriohepatic Dysplasia, Syndromic Bile Duct Paucity Alagille Syndrome Testing JAG1
Arrhythmogenic right ventricular dysplasia (ARVD) ARVDNext DSG2, DSP, DSC2, JUP, PKP2, TGFB3, TMEM43, RYR2
Beta Thalassemia, Sickle Cell Anemia, Sickle-Beta-Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Arrhythmogenic right ventricular dysplasia (ARVD), Brugada syndrome (BrS), Catecholaminergic polymorphic ventricular tachycardia (CPVT), Congenital heart defects, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular non-compaction (LVNC), Long QT syndrome (LQTS), Restrictive cardiomyopathy, 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
CHARGE Syndrome CHARGE Syndrome testing CHD7
Arrhythmogenic right ventricular dysplasia (ARVD), Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular non-compaction (LVNC), 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
Catecholaminergic polymorphic ventricular tachycardia (CPVT) CPVTNext RYR2, ANK2, CALM1, CASQ2, KCNJ2, TRDN
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
Familial Hypercholesterolemia Familial Hypercholesterolemia APOB, LDLR, PCSK9
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
Hereditary hemorrhagic telangiectasia (HHT), Osler-Weber-Rendu syndrome Hereditary Hemorrhagic Telangiectasia (HHT) Testing ACVRL1, ENG, SMAD4, GDF2, RASA1
Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu, Juvenile Polyposis (SMAD4-Related) HHT Sequencing, Del/Dup & SMAD4-Related HHT
Left ventricular non-compaction (LVNC) LVNCNext ACTC1, TNNT2, TPM1, LDB3/ZASP
Myotonic dystrophy, type 2 Myotonic dystrophy, type 2 CNBP
Noonan Syndrome Noonan Syndrome KRAS, PTPN11, RAF1, SOS1
Arrhythmogenic right ventricular dysplasia (ARVD), Brugada syndrome (BrS), Catecholaminergic polymorphic ventricular tachycardia (CPVT), Long QT syndrome (LQTS), Short QT syndrome (SQTS), Inherited arrhythmias/channelopathies, 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
Arterial tortuosity syndrome, Congenital contractural arachnodactyly (CCA or Beals syndrome), Homocystinuria caused by cystathionine beta-synthase deficiency, Ehlers-Danlos syndrome, vascular type (EDS IV), Ehlers-Danlos syndrome, classic type (EDS I and II), Ehlers-Danlos syndrome, kyphoscoliosis form (EDS VI), Loeys-Dietz syndrome, types 1-4, Lujan-Fryns syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and dissection (TAAD), 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
Wilson Disease Wilson Disease ATP7B