Whole Exome Sequencing Reanalysis, Varies
Use
This test is used for identifying a diagnosis or additional variants in patients who previously had negative or inconclusive whole exome sequencing results. It allows for reanalysis of whole exome sequencing data when new clinical features present in a patient (proband) or when new gene-disease associations are discovered. The reanalysis increases the diagnostic yield of whole exome sequencing by finding additional variants associated with the patient's phenotype.
Special Instructions
Not provided.
Limitations
Whole exome sequencing may not detect all types of genomic variants. Technical limitations include regions of homology, high GC content, and repetitive sequences, which can affect evaluation. False negative or positive results may occur, and the test is not designed to detect low levels of mosaicism or distinguish between somatic and germline variants. It may not effectively evaluate certain regions of genes, and alternative methods might be needed for specific disorders.
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
84 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 whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient |
| Refrigerated | Refrigerated |