Familial Variant, Targeted Testing
Use
Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired. It is also useful for carrier screening for individuals at risk for having a variant that was previously identified in a family member, segregation analysis for a familial DNA variant, and confirmation of germline status for variants detected via somatic testing.
Special Instructions
Not provided.
Limitations
Rare allelic variants may be present and could lead to false-negative or false-positive results. This assay does not rule out the presence of other variants within this gene or within other genes that may be associated with the familial condition. Analysis is performed for the familial variants provided only, and does not assess other gene variations. Contact the laboratory with any questions regarding assay performance.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 85069-3 - Lab test method
- 18771-6 - Provider signing name
Result Turnaround Time
15-22 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)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 14 days |