The ACMG report covers the list of gene variants recommended for
reporting by the American College of Medical Genetics & Genomics.
What's in the report? Traits covered in this report include:
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Familial thoracic aortic aneurysm and dissection (FTAAD), Arrhythmogenic cardiomyopathy, Marfan syndrome, Long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia ,Brugada syndrome, Loeys-Dietz syndrome, Short QT syndrome, Skin fragility-woolly hair syndrome, Familial hypercholesterolemia (FH), Breast-ovarian cancer familial, Cardiac Arrhythmia,Cardiomyopathy, Cardiomyopathy dilated with woolly hair keratoderma, Lethal acantholytic epidermolysis bullosa, Familial hypobetalipoproteinemia, Hypokalemic periodic paralysis, Jervell and Lange-Nielsen syndrome, KCNQ1-related disorders, Lynch syndrome, Malignant hyperthermia susceptibility, Tuberous sclerosis complex, Tuberous sclerosis 1, Tuberous sclerosis 2, Wilson disease, Ornithine carbamoyltransferase deficiency, Ehlers-Danlos syndrome, vascular type, Neurofibromatosis type 1, Neurofibromatosis type 2, Wilms tumor (Nephroblastoma) retinoblastoma, PTEN hamartoma tumor syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2, Von Hippel-Lindau disease, Peutz-Jeghers syndrome, Juvenile polyposis syndrome, Li-Fraumeni syndrome