Comprehensive Cerebrovascular Gene Panel, Varies
Use
Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident. Establishing a diagnosis of a monogenic condition in which there is an increased risk for a cerebrovascular accident. This test helps identify disease-causing variants for 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. False-negative or false-positive results may occur. There are regions in genes that cannot be effectively evaluated due to technical limitations, such as regions of homology, high GC content, and repetitive sequences. Negative results do not rule out a genetic disorder. This test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Variants may need further confirmation by alternate methodologies based on internal criteria. Deletions/duplications that extend past the genes in the panel may occur, but these are not typically reported or interpreted.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 55232-3 - Genetic analysis summary 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
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 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
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions, contact the lab.
Storage Instructions
Preferred to arrive within 96 hours of collection.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |