Rapid Trio Whole Genome Sequencing

Clinical Use

Use

The Whole Genome Sequencing (WGS) test is designed to identify changes in a person's DNA that may be related to medical concerns. This test examines the entire human genome for a wide range of errors, including single nucleotide variants (SNVs) and copy number variants (CNVs), providing comprehensive insights into potential disease-causing variations. The WGS test is the preferred approach for patients with an extensive differential diagnosis, as it can consolidate what would otherwise require multiple tests into a single comprehensive analysis, offering significant benefits in terms of speed and thoroughness of results. Rapid Trio WGS specifically caters to critically ill patients, allowing for quicker results that enhance care quality.

Special Instructions

If a qualified variant is identified, RNA sequencing (RNAseq) can be performed to assist in variant reclassification. This option must be selected at the time of ordering, and any additional sample needed for RNAseq will be coordinated by Client Services after contacting the ordering provider. RNAseq can only be executed on blood samples, emphasizing the need for proper sample selection when ordering.

Limitations

The turnaround time (TAT) depends on the sample type and initiates only once all familial samples are received. Optimal sample quality is crucial for timely analysis, and blood samples are preferred. Interpretations of genetic variations are based on current gene understanding, which may evolve as knowledge advances. Possible diagnostic errors include sample mix-ups, variant interference in analysis, and misassignment of biological parentage. Variants detected may not include those at heteroplasmy levels of less than 5% for mtDNA SNVs and 10% for CNVs.

Test Details

New York Approved