Whole Exome Sequencing Comparator - Mother
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 mother can be used as a comparator to inform the diagnosis of the proband.
Special Instructions
Not provided.
Limitations
This assay may not detect mosaicism consistently or rule out large chromosomal aberrations such as rearrangements and inversions that do not alter copy number. Repeat expansions, sex chromosome anomalies, and the implications of pseudogenes or homologous regions might not be detected. Results may suffer false positives/negatives due to limited available information on rare variants, somatic or tissue-specific mosaicism, or misidentification of family relations. The clinical significance interpretation of gene variations depends on the variant data and clinical information supplied when conducting the test. Note that these interpretations might change over time as further genetic information becomes available.
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
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
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