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
Not provided.
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 - Arrhyth cardio multi anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
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 |