Trio Whole Genome Sequencing

Clinical Use

Use

The Whole Genome Sequencing (WGS) test is designed to identify changes in an individual's DNA related to medical concerns. It thoroughly analyzes the human genome to detect a wide range of genetic alterations, including single nucleotide variants (SNV) and copy number variants (CNV) in both nuclear and mitochondrial DNA. Unlike other tests focusing on single genes, WGS assesses the complete genetic code, offering insights into known and potential disease-causing variations. This capability is particularly beneficial for patients with complex medical histories, allowing comprehensive genetic insights from a single test. The test is vital for individuals displaying multiple congenital anomalies, autism spectrum disorder, neurodevelopmental disorders, and similar conditions.

Special Instructions

If a qualified variant is identified, RNA sequencing (RNAseq) can be performed to further classify the variant. This requires selecting RNAseq at the time of order to ensure the additional insights are obtained if a qualified variant is found. The RNAseq test can exclusively be conducted on blood samples, and any further requests to perform RNAseq will be managed by Client Services, who will liaise with the ordering provider.

Limitations

Turnaround time may vary based on sample type and begins once all family samples are received. Interpretations of nucleotide changes are contingent on current understanding, which evolves as more genetic data becomes available. Risks include potential sample mix-ups, variants interfering with analysis, and incorrect biological parentage assignments.

Test Details

New York Approved