Test Overview
Test Methodology

Approximately 150 exons of the 17 genes including their splice junctions are sequenced using a novel solid-state sequencing-by-synthesis process that allows sequencing a large number of amplicons in parallel. For analysis, DNA sequence is assembled and compared to the published genomic reference sequences. The presence of any potentially disease-associated sequence variant(s) is confirmed by conventional dideoxy DNA sequence analysis.

Test Usage

Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous condition and to date, mutations in 17 genes have most commonly been identified in adult HCM patients: MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3,
MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TNNC1 and TTR.

Test Limitations

Approximately 60%-70% of individuals with a clinical diagnosis of HCM are expected to harbor a disease-causing
mutation in one or more of the genes tested in this panel. The technical sensitivity of this test is estimated to be 98%.

Test Details
Analytic Time

4 - 8 weeks

Soft Order Code
GNDX
Laboratory
Sendout
Reference Laboratory
GeneDx
Section
Special Testing
Specimen Requirements
Collection Instructions

Collect specimen in a lavender top (EDTA) tube. Refrigerate and send intact specimen.

Normal Volume
2 - 5 mL EDTA whole blood
Rejection Criteria
Buccal Brush specimens are not acceptable.
Additional Information

Test sent to GeneDx.

Billing
Fee Code
40393