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
Beta Thalassemia, Sickle Cell Anemia, Sickle-Beta-Thalassemia Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia) HBB
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
Myotonic dystrophy, type 2 Myotonic dystrophy, type 2 CNBP
Noonan Syndrome, LEOPARD Syndrome Noonan Syndrome and Noonan/LEOPARD Syndrome KRAS, PTPN11, RAF1, SOS1
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