Proband Whole Exome Sequencing
Use
Proband Whole Exome Sequencing (WES) is a sophisticated test designed to identify genetic variations responsible for medical issues in patients. Unlike panel sequencing, which focuses on one or a few genes, WES concurrently analyzes the exons of thousands of genes. The exome is crucial as it encompasses functionally significant DNA sequences that encode proteins essential for bodily functions. Errors in these coding regions frequently lead to genetic disorders. The test sequences the exome comprehensively, ensuring reliable identification of DNA variations linked to medical conditions. Comparing the patient's exome to normal references allows for precise identification of significant genetic changes.
Special Instructions
If a qualified variant is identified through this test, RNA sequencing (RNAseq) can be initiated to further evaluate the variant's clinical significance. It is crucial to select RNAseq during the order to ensure follow-up testing, which is limited to blood samples. If additional samples become necessary, Client Services will contact the ordering provider for further coordination.
Limitations
The interpretation of nucleotide changes is contingent upon current knowledge of the associated genes, which may evolve over time as more data becomes available. Errors can arise from potential mix-ups in samples, genetic variants that complicate analysis, incorrect biological parentage assignments, or various other sources. For any concerns regarding these potential errors, contacting a genetic counselor at Baylor Genetics is advised.
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
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature by overnight courier; do not heat or freeze.