Quad Whole Exome Sequencing (WES)
Use
Quad Whole Exome Sequencing (WES) is a comprehensive genetic test designed to identify causal changes in a patient's DNA related to medical issues. It is more extensive than panel tests, analyzing thousands of genes simultaneously to pinpoint genetic disorders that may lead to conditions such as congenital anomalies and neurodevelopmental disorders. The test sequences the exome’s coding regions, crucial for protein synthesis, to enhance diagnostic accuracy. By comparing the sequenced exome to reference sequences, variations are identified, interpreted by experts, and linked to potential medical implications. It requires not only the patient's sample but also parental and relative samples for effective interpretation, ensuring thorough results and comprehensive understanding.
Special Instructions
If a qualified variant is identified, RNA sequencing (RNAseq) may be performed to gain further understanding. This additional testing can only occur on blood samples, necessitating immediate communication with the ordering provider if more samples are needed for RNAseq. To leverage the full potential of this test, it is recommended to select RNAseq when placing the order, ensuring follow-up can happen efficiently if a variant of interest is discovered.
Limitations
Interpretative evaluations of nucleotide alterations depend on the latest knowledge of involved genes, which may evolve. Limitations include potential sample mislabeling, genetic variations that may obscure results, and potential misunderstandings regarding biological parentage. These factors can contribute to diagnostic inaccuracies, emphasizing the need for meticulous sample handling and attentive interpretation processes. The complexity of genetic information can sometimes hinder definitive conclusions, illustrating the dynamic nature of genomic research where new insights can emerge affecting previous assessments.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc (Infant<2yrs)
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (adults/children) and 3 cc (Infant<2yrs).
Storage Instructions
Ship at room temperature by overnight courier; do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |