Family Member Comparator Specimen for Exome Sequencing, Varies
Use
This test is used to submit a biological family member's specimen as a comparator for affected patients (probands) undergoing whole exome sequencing (WES). It assists in interpreting inherited genetic variants found in the proband and helps determine if these variants segregate with a phenotype in the family. By analyzing samples from both biological parents, the chance of identifying a diagnosis in the proband is increased, as comparator samples from family members enhance the diagnostic capability of the WES.
Special Instructions
Not provided.
Limitations
Whole blood from an allogenic donor can interfere with test results. Saliva and blood spot specimens may provide lower quality DNA, potentially impacting performance. Certain gene regions may not be effectively evaluated due to assay limitations like homology and high GC content. If DNA quality is inadequate, additional specimens may be required, and DNA quality will be noted in the report if issues arise.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
LOINC Codes
- 86205-2 - Whole exome seq analysis Bld/T
- 69047-9 - Geneticist review
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
56-70 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); Green top (sodium heparin) acceptable
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Postnatal 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 |