Amish Heart Disease Risk Panel

Short Name: Amish Cardiac Panel

This test analyzes three founder mutations in the Amish population related to heart disease risk:  c.3330+2T>G variant in MYBPC3, c.699G>A variant in DSP, and c.451_452delCT variant in KCNQ1. Clinical overlap between these three founder mutations includes progressive heart failure, sudden cardiac death, syncope, arrhythmia, shortness of breath, and cardiac arrest. All three founder mutations are tested at once to provide the best risk assessment for patients in the Amish community.

CPT Code: 81403x3
Turn-Around Time: 1-2 weeks

Gene NameOMIM

Additional Information:

Disorder Names:

Arrhythmogenic Right Ventricular Dysplasia
Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy
Jervell and Lange-Nielson Syndrome
Keratosis Palmoplantaris Striata
Lethal Acantholytic Epidermolysis Bullosa
Long QT Syndrome