Whole Exome Sequencing Comparator - Father
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 father can be used as a comparator to inform the diagnosis of the proband.
Special Instructions
This specimen should be collected from the father of the patient for whom Whole Exome Sequencing - DUO or TRIO (Proband) has been ordered. Ensure proper collection and submission of the sample following the appropriate procedures. Collection includes standard phlebotomy for whole blood, kit instructions for oral swabs, and specific guidelines for extracted DNA.
Limitations
This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change the copy number of genomic regions. It does not detect repeat expansions. Results may be affected by rare genetic variants, sex chromosome abnormalities, and pseudogene interference. Interpretation of variants may change over time as new data becomes available.
Methodology
NGS (WES)
Biomarkers
LOINC Codes
- 86205-2
- 86205-2
- 80563-0
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
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 |