Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT). It helps in establishing a diagnosis of CPVT, which is a genetic cardiac arrhythmia condition characterized by polymorphic and bidirectional ventricular tachycardia induced by physical or emotional stress. Identification of a disease-causing variant may assist in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for CPVT.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur, and the depth of coverage may be variable for some target regions. Certain regions of genes may not be effectively evaluated due to technical limitations, including homology and high guanine-cytosine content. This test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Negative results do not rule out the diagnosis of a genetic disorder.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 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
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 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); Acceptable: Green top (sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Umbilical cord blood is 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 |