Standard Genome Sequencing (GS) and Rapid Genome Sequencing (rGS)

Overview

The NYGC’s standard and rapid clinical genome sequencing tests are offered as a trio-test in which the affected patient of interest (proband) together with two first-degree relatives (usually the biological parents) are sequenced together. Sequencing data is analyzed in the context of family relationships to increase the likelihood of identifying genetic variants that may be contributing to the symptoms observed in the child. The NYGC’s Clinical Laboratory also accepts samples from just the affected individual, as well as from other affected or unaffected relatives, as appropriate to provide additional context and help guide interpretation on a case-by-case basis.

Knowledge of disease-causing mutations is changing at a rapid pace. To help clinicians better serve their patients, the NYGC’s proprietary genome sequencing pipeline incorporates up-to-date variant databases and disease-specific databases to keep pace with the ever-changing growth in knowledge. Additionally, GS and rGS may also identify variants in genes previously not linked to a disease (novel genes). Since genome sequencing interrogates all protein-coding regions, it replaces the potential need for multiple costly single-gene tests, avoids clinician guesswork or bias in gene testing decisions, improves the odds of identifying a high-risk variant and thereby improves the diagnostic success rate and guidance of appropriate clinical management.