Duo Whole Genome Sequencing

Clinical Use

Use

Duo Whole Genome Sequencing (WGS) is intended for identifying genetic variations that may relate to medical concerns, providing a thorough analysis of the human genome. It analyzes a range of genetic errors, including single nucleotide variants (SNV) and larger alterations in DNA, thus serving as a comprehensive tool for detecting disease-causing variations. This test is particularly beneficial for patients with complex diagnostic needs, as it can yield answers more effectively than multiple specialized tests. It helps in addressing various health conditions linked to genetic anomalies, offering insights that can aid in patient management and treatment decisions.

Special Instructions

If a qualified variant is identified through this test, RNA sequencing can be performed for further variant reclassification. RNAseq is available to provide additional functional information when a variant meets specific criteria. It's important to select RNAseq at the time of ordering. Since RNAseq requires blood samples, a follow-up contact from Client Services may occur if an additional sample is necessary.

Limitations

The turnaround time begins once all required familial samples are received, and the timing can vary based on the sample types. Interpretation of findings is based on current knowledge, which may evolve over time, potentially impacting the accuracy of conclusions. There is also the possibility of diagnostic errors stemming from unintended sample mix-ups, the presence of genetic variants that may complicate analysis, and erroneous parentage assignments.

Test Details

New York Approved