GeneSeq® Cardio: Familial Cardiomyopathy Panel
Also known as: Arrhythmogenic right ventricular dysplasia /cardiomyopathy, Dilated, hypertrophic and restrictive cardiomyopathy
Use
This test is used for diagnostic testing for cardiomyopathy, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy, restrictive cardiomyopathy and amyloid-associated cardiomyopathies such as transthyretin (TTR) amyloidosis and apolipoprotein A-1 amyloidosis. It also is used for presymptomatic testing for family members.
Special Instructions
Not provided.
Limitations
The technologies used in this test do not detect germline mosaicism, large chromosomal aberrations including rearrangements and gene fusions, variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. There may be changes over time in variant classification and/or interpretation as more information becomes available. False positive or false negative results can occur due to reasons such as rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships. This test was developed and its performance characteristics determined by Labcorp, and it has not been cleared or approved by the Food and Drug Administration.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48018-6 - Gene studied ID
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 48003-8 - DNA seq var ID
- 53039-4 - Gene dis anl carrier interp-Imp
- 8262-8 - Service Cmnt 02-Imp
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 8251-1 - Service Cmnt-Imp
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 51969-4 - Gene analysis narr rpt Doc
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Patient Preparation
Do not eat, drink, smoke, or chew gum 30 minutes before collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days at 4°C |
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