Whole Genome Sequencing Reanalysis, Varies
Use
This test is useful for identifying new diagnoses or additional variants associated with the phenotype in patients who previously had a negative or inconclusive whole genome sequencing test. It allows for reanalysis when a patient presents with new clinical features or to incorporate newly discovered gene-disease associations, changes to variant classifications, and updates to bioinformatics pipelines. This process aims to increase the diagnostic yield of whole genome sequencing.
Special Instructions
Not provided.
Limitations
Whole genome sequencing may not capture all types of genomic variants, potentially leading to false-negative results. Technical limitations include regions with variable depth of coverage, homology, or repetitive sequences. Negative results do not exclude a genetic disorder diagnosis. False positives may occur but are rare due to confirmation of reportable variants using alternative methods. There might be unsuccessful detection of large mitochondrial genome deletions and duplications.
New York Approved
Methodology
NGS (Other)
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
84 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD), acceptable: Green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Postnatal umbilical cord blood is acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |