MYBPC3 Gene Mutation Analysis

Hypertrophic cardiomyopathy is typically inherited in an autosomal dominant pattern and has a variable age of onset and prognosis. Mutations in the myosin-binding protein (MYBPC3) gene are one of the most frequent genetic causes of the disease. Various mutations in the MYBPC3 gene have been documented in patients with hypertrophic cardiomyopathy. The c.3330+2T>G mutation has been found specifically in Old Order Amish patients.

Test Indications

  • Confirmation of a clinical diagnosis
  • Family history of known c.3330+2T>G MYBPC3 gene mutation
  • Family history of hypertrophic cardiomyopathy in an Amish family

OMIM #: 600958

Sample Requirements

  • Infants: 2-3 mL whole blood in purple top EDTA tube
  • Children (>2 years) and adults: 3-4 mL whole blood in purple top EDTA tube

Sample Handling

Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday morning at the latest].

Shipping Address

Center for Human Genetics Laboratory
10524 Euclid Avenue, Sixth Floor
Cleveland, OH 44106

For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.

Turnaround Time

Two weeks

CPT Code


Please submit a completed Molecular Requisition for each sample.