Family Member Comparator Specimen for Genome Sequencing, Varies
Use
This test is used for submitting biological family member specimens as comparators for affected patients undergoing whole genome sequencing. It helps determine the inheritance of genetic variants identified and if they segregate with a phenotype in the family. The assay is most informative when samples from both biological parents are used as comparators, which increases the chance of identifying a diagnosis in the proband.
Special Instructions
Not provided.
Limitations
The test results will only be provided in the context of the proband's whole genome sequencing report. Variants present in family member comparator samples but absent from the proband sample are not evaluated or reported. Technical limitations may prevent some regions of genes from being effectively evaluated due to homology, variable depth of coverage, and repetitive sequences. Unexpected genetic information about family members may be revealed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 86206-0 - Whole genome seq analysis Bld/T
- 69047-9 - Geneticist review
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
70-84 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.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient (preferred) 4 days, Refrigerated 4 days, Frozen 4 days
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |