Dilated Cardiomyopathy Panel, Sequencing
Also known as: DCM NGS
Use
The Dilated Cardiomyopathy Panel, Sequencing test is used to determine the etiology of dilated cardiomyopathy (DCM) in symptomatic individuals. It is also useful for presymptomatic testing in individuals with a family history of DCM or sudden cardiac death. DCM is characterized by left ventricular enlargement with systolic dysfunction and is a leading cause of heart transplantation in children and adults. The prevalence of DCM is estimated at 1:250 to 1:2500, with 20-50 percent of cases being familial. The test investigates pathogenic germline variants in genes associated with familial DCM, typically inherited in an autosomal dominant manner.
Special Instructions
Informed Consent for Genetic Testing is required for New York patients. The test uses massively parallel sequencing and involves the capture of all coding exons and exon-intron junctions of the targeted genes. Sanger sequencing is performed as necessary for regions of low coverage and to confirm reported variants. Counseling and informed consent are recommended for genetic testing.
Limitations
The test does not exclude a heritable form of DCM if a negative result is obtained. Variants detectable by this test are limited to coding regions and intron-exon boundaries of the targeted genes, with no analysis of mitochondrial DNA or non-coding transcripts. Large deletions, duplications, inversions, and deep intronic variants will not be identified. The test may not detect low-level mosaic or somatic variants and is not cleared or approved by the FDA. Certain exons in genes such as FLNC, PRKAG2, and TTN are not covered due to technical limitations.
Methodology
NGS (Targeted)
Biomarkers
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
Causes for Rejection
Serum or plasma, grossly hemolyzed or frozen specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |