Arrhythmogenic Cardiomyopathy Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy, establishing a diagnosis for hereditary arrhythmogenic cardiomyopathy. Identification of a disease-causing variant aids in diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
The test employs next-generation sequencing to detect single nucleotide and copy number variants in 18 genes linked to hereditary arrhythmogenic cardiomyopathy. Prior Authorization is available but not required. Customization of this panel and single gene analysis are possible. For further information, consult the Special Instructions or contact Mayo Clinic Laboratories.
Limitations
Next-generation sequencing may not detect all types of genomic variants, particularly those in regions with high GC content or homology. False-negative or false-positive results, variable coverage, and regions outside target parameters may present limitations. This test is not suitable for differentiating somatic from germline variants nor for detecting low levels of mosaicism.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 107549-8
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-35 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)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |