Hypertrophic Cardiomyopathy Gene Panel, Varies
Use
Provides a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy. Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
Not provided.
Limitations
Next‑generation sequencing may not detect all types of genomic variants; false‑negative or false‑positive results may occur. Depth of coverage may vary for some regions; failed regions will be noted. Some gene regions (e.g., high GC content, homology, repetitive sequence) may not be effectively evaluated. Allogeneic stem cell transplant or recent blood transfusion may interfere. Negative results do not rule out disease. Variant reclassification is not routinely performed. Variant evaluation follows ACMG/AMP recommendations; benign or likely benign variants are not reported. Incidental findings occasionally may occur.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); any anticoagulant acceptable
Collection Instructions
Invert several times to mix blood; send whole blood specimen in original tube; do not aliquot.
Patient Preparation
Bone marrow transplant from allogeneic donor may interfere; contact lab for instructions.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |
| Refrigerated | Refrigerated |