Rapid Duo Whole Genome Sequencing
Use
The Whole Genome Sequencing (WGS) test is designed to identify changes in an individual's DNA that relate to their medical concerns. It involves a comprehensive analysis of the human genome, assessing errors that range from single nucleotide variants (SNVs) to larger alterations. This powerful tool aids in detecting disease-causing variations. Unlike tests that only examine specific genes, WGS analyzes the complete genetic code, providing deeper insights, especially for patients with complex differential diagnoses. The service includes analysis of both nuclear genes and mitochondrial DNA, enhancing the diagnostic process for various disorders.
Special Instructions
If a qualified variant is identified, RNA sequencing (RNAseq) can be performed to assist with its reclassification. RNAseq offers additional insights based on our prediction algorithm (SpliceAI). Ordering RNAseq with the initial request is crucial if further evaluation is needed. The procedure is limited to blood samples, and further communication will occur if additional samples are required.
Limitations
The turnaround time (TAT) is influenced by the type of sample and starts as soon as all familial samples are received. Sample quality is pivotal to meeting the stated TAT, with blood samples preferred. Moreover, the interpretation of genetic variants evolves, and potential errors may stem from sample mix-ups, interfering variants, or incorrect parentage assignments, among others.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |