Whole Exome Sequencing Comparator - Additional FM
Use
Whole exome sequencing (WES) is a genetic test used to identify a hertiable cause of disorder. This test should be used in cases of WES DUO or TRIO sequencing where the parental samples are unavailable and an additional family member can be used as a comparator to inform the diagnosis of the proband.
Special Instructions
Not provided.
Limitations
This NGS-based assay is unable to consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not alter copy number. It does not detect repeat expansions, and there is potential for false positives or negatives due to factors such as insufficient information about rare variants, sex chromosome abnormalities, pseudogene interference, homologous regions, and mosaicism or heteroplasmy. The interpretation of genetic variants is dependent on the quality and quantity of clinical data provided, and the understanding of clinical significance can evolve over time.
Methodology
NGS (WES)
Biomarkers
LOINC Codes
- 86205-2 - Whole exome seq analysis Bld/T
- 86205-2 - Whole exome seq analysis Bld/T
- 80563-0 - Report
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Whole blood: standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |
Other tests from different labs that may be relevant