Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of dilated cardiomyopathy or left ventricular noncompaction (LVNC). It aids in establishing a diagnosis of these hereditary forms by utilizing next-generation sequencing to detect single nucleotide and copy number variants in 63 genes associated with these conditions. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
This test includes next-generation sequencing followed by PCR and Sanger Sequencing for select variants. Prior authorization is available, but not required. Specimen preferred to arrive within 96 hours of collection. Informed consent required for New York clients. Customization of this panel and single gene analysis are available.
Limitations
Next-generation sequencing may not detect all types of genomic variants and has certain technical limitations, including regions of homology and high guanine-cytosine content that may not be effectively evaluated. False negatives or positives are possible, and balanced structural rearrangements may not be detected. The test does not assess for low levels of mosaicism or differentiation between somatic and germline variants. Sensitivity is estimated above 99% for SNVs and certain indels, but deletions-insertions of 40 or more bp may be less reliably detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 107545-6
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 85069-3
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD); Acceptable: Any anticoagulant
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |