Proband Whole Genome Sequencing

Clinical Use

Use

The Whole Genome Sequencing (WGS) test is designed to identify genetic changes linked to medical concerns by providing a comprehensive analysis of the human genome. This includes detection of variations from single nucleotide variants (SNVs) to significant alterations in large segments of DNA. WGS stands out by analyzing the entire genetic code, unlike tests that target specific genes. Patients with complex conditions, such as multiple congenital anomalies or neurodevelopmental disorders, may greatly benefit from this test by obtaining a clearer diagnosis without undergoing multiple tests.

Special Instructions

Qualified variants identified in WGS can lead to RNA sequencing (RNAseq) to further classify the variant, based on predictive algorithms. If RNAseq is to be performed, it should be selected at the time of order, as it is limited to blood samples only. Additional sample requests will prompt client services to contact the ordering provider, ensuring that all necessary clinical information is gathered for proper variant interpretation.

Limitations

Interpretations may vary as our understanding of genetics evolves over time, leading to potential diagnostic errors. Factors such as sample mix-ups or genetic variants that may complicate analyses can affect test outcomes. Furthermore, the capabilities of the test to detect certain variants in mitochondrial DNA depend on detailed thresholds of heteroplasmy levels. Thus, the accuracy of results can be impacted by other biological variables and changes in the guidelines for interpretation.

Test Details

New York Approved