Quad Whole Genome Sequencing (WGS)

Clinical Use

Use

Quad Whole Genome Sequencing (WGS) is a sophisticated diagnostic tool that enables the identification of genetic alterations responsible for various medical conditions. It analyzes the entire human genome, providing insights into both known and potential disease-causing variations. WGS is particularly beneficial for patients with complex differential diagnoses, as it can uncover a wide range of genetic variants, including single nucleotide variants (SNVs), copy number variants (CNVs), and short tandem repeats (STRs). This comprehensive testing approach may eliminate the need for multiple genetic tests, offering quicker and more efficient answers to patients.

Special Instructions

If a qualified variant is detected via WGS, RNA sequencing (RNAseq) may be conducted to refine the variant's classification. By selecting RNAseq at the time of order, clinicians can ensure further functional analysis is performed as needed. RNAseq can only utilize blood samples, and additional coordination may be required if further samples are necessary to complete the analysis.

Limitations

Interpretations are based on the current understanding of genetic markers and can evolve as new insights arise. Diagnostic inaccuracies may occur due to various factors, such as sample contamination, genetic variants complicating analysis, incorrect biological parental assignments, or other unforeseen variables. It's important to note that the reliability of detecting mitochondrial DNA variants and copy number variations may decrease significantly if underlying levels are low. Thus, continued advancements in genetic research may revisit and refine these interpretations over time.

Test Details

New York Approved