Rapid Trio Whole Exome Sequencing
Use
Trio Whole Exome Sequencing (WES) is an advanced genetic test aimed at identifying DNA changes related to medical concerns, especially for critically ill patients with undiagnosed genetic syndromes. This approach analyzes thousands of genes' exons simultaneously, which are the functionally significant regions responsible for protein coding. Errors in these exons account for most genetic disorders, making WES a comprehensive method for identifying the genetic causes of diseases. By providing a consensus sequence of a patient's DNA, WES can pinpoint variations and correlate them with medical conditions, thus aiding in accurate diagnosis and treatment.
Special Instructions
If a qualified variant is found, RNA sequencing can provide additional functional insights. To initiate RNAseq after WES, select it during order placement. Only blood samples can be used for RNAseq, any additional samples required will prompt client service outreach.
Limitations
The turnaround time (TAT) is dependent on sample type and starts only once all familial samples are collected. Sample quality significantly impacts the ability to meet TAT. The interpretation of genetic variations hinges on current understanding, which can evolve over time. Possible diagnostic errors include sample mix-ups, interfering genetic variants, incorrect parentage assignments, among others.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
5-6 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc (adults/children) and 3 cc (Infants < 2yrs)
Minimum Volume
3-5 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |