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 Plus (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, GLA, 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 |
| 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, GLA, 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 |