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 Alagille AMPLIFIED™ JAG1
Brugada syndrome (Brugada), LongQT syndrome (LQTS), Catecholaminergic polymorphic ventricular tachycardia (CPVT), Short QT syndrome (SQTS), Sudden cardiac arrest (SCA), Laminopathies, LMNA- related conduction system disease, Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), 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
Beta Thalassemia, Sickle Cell Anemia, Sickle-Beta-Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), 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
CHARGE Syndrome CHARGE Syndrome CHD7
Familial Hypercholesterolemia Familial Hypercholesterolemia APOB, LDLR, PCSK9
Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu, Juvenile Polyposis (SMAD4-Related) HHT Sequencing, Del/Dup & SMAD4-Related HHT ACVRL1, ENG, SMAD4
Marfan Syndrome, Familial Aortic Aneurysm (FAA), 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
Myotonic dystrophy, type 2 Myotonic dystrophy, type 2 CNBP
Noonan Syndrome, LEOPARD Syndrome Noonan Syndrome and Noonan/LEOPARD Syndrome KRAS, PTPN11, RAF1, SOS1
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
Wilson Disease Wilson Disease ATP7B