Comprehensive Arrhythmia Gene Panel, Varies
Use
This test is useful for providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia. It aims to establish a diagnosis of hereditary cardiac arrhythmias by detecting single nucleotide and copy number variants in genes associated with these conditions. Identifying a disease-causing variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary cardiac arrhythmias.
Special Instructions
Prior Authorization is available for this assay but not required. New York clients must have informed consent documented on the request form. A cardiovascular test request form should accompany the specimen if not ordering electronically. Specimens must be collected with the appropriate containers and follow specific preservation methods to ensure accurate analysis.
Limitations
Next-generation sequencing may not detect all types of genomic variants. Certain regions of genes may not be effectively evaluated due to homologous regions, high GC content, and repetitive sequences. There may be depth of coverage variability that affects assay performance in some target areas. Structural rearrangements like translocations and inversions, or low levels of mosaicism may not be detected. Additionally, balanced structural rearrangements may not be identified. Regions prone to difficulties will be noted in the test report, and negative results do not rule out a genetic disorder. Specific variant confirmations will be performed by alternate methods. If patients have had an allogeneic hematopoietic stem cell transplant or a recent non-leukocyte reduced blood transfusion, results may be inaccurate due to donor DNA presence.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 65089-9
- 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. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |