Hypertrophic Cardiomyopathy Panel, Sequencing
Also known as: HCM NGS
Use
The Hypertrophic Cardiomyopathy Panel is used to determine the etiology of hypertrophic cardiomyopathy (HCM) in symptomatic individuals. It is also valuable for presymptomatic testing in individuals with a family history of HCM or sudden cardiac death. HCM is a genetically heterogeneous disorder characterized by unexplained left ventricular hypertrophy, which can lead to arrhythmias, obstruction, heart failure, and sudden cardiac death. This test contributes to identifying pathogenic variants in relevant genes that could be responsible for the condition.
Special Instructions
Not provided.
Limitations
The test detects variants only within the coding regions and intron-exon boundaries of the targeted genes. It does not interrogate mitochondrial genes, regulatory region variants, large deletions/duplications/inversions, and deep intronic variants. This assay may not detect low-level mosaic or somatic variants. Interpretation of results may be impacted if the patient has had allogeneic stem cell transplantation. Certain exon(s) in BRAF, FLNC, and PRKAG2 genes are not sequenced due to technical limitations, and mitochondrial genes are not covered.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 81860-9 - HCM Mut Anl Bld/T Seq
- 31208-2 - Specimen source
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated transport required.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant