Whole Exome Sequencing for Hereditary Disorders, Varies
Use
This test serves as a first-tier diagnostic tool to identify molecular diagnoses in patients with suspected genetic disorders. It aids in understanding natural history and prognosis, targeted management, predictive testing of at-risk family members, and recurrence risk assessment. It is also used as a second-tier test for patients where previous genetic testing was negative, offering a potentially cost-effective alternative to multiple independent assays.
Special Instructions
Not provided.
Limitations
Whole exome sequencing cannot detect deep intronic variants, trinucleotide repeat variants, or variants in the mitochondrial genome. It is not designed for identification of somatic variants in solid tumors or for pharmacogenomic genotyping. Technical limitations may prevent detection in regions with homology, high GC content, and repetitive sequences. The sensitivity for detecting deletions and insertions is greater than 95% for certain sizes, but some copy number and structural variants may not be reliably detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
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)
Collection Instructions
Invert several times to mix blood. Send in original tube, do not aliquot. Whole blood collected postnatal from an umbilical cord is acceptable.
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 |