CONSTITUTIONAL WHOLE GENOME SEQUENCING (WGS) FOR UNDIAGNOSED DISEASE

CONTACT:
For inquiries, please contact us at:
clinical@nygenome.org

NYGC is the only clinical laboratory offering New York State-approved clinical WGS tests for undiagnosed disease.

 

Clinical constitutional whole genome sequencing (WGS) is a complex genetic test which involves sequencing the entire human genome. In comparison to whole exome sequencing (WES), this test includes sequencing both the protein coding regions of the genome (exons) and the non-protein coding regions of the genome (introns). WGS is often the last step in genetic testing when after previous tests have been unsuccessful. This test provides physicians and patients alike with the most comprehensive genetic information available using NYGC’s advance technology and state-of-the-art bioinformatics pipeline. These tests are performed on Illumina’s HiSeq X sequencers, utilizing the most advanced technology to provide prompt readout of the entire genome. The HiSeq X sequencers dramatically enhance turnaround time and reduce costs for WGS in comparison with previous-generation equipment. Sequence variants are examined and filtered using various stringencies as part of our proprietary pipeline that incorporates variant databases and disease-specific databases, providing superior quality and reliability in variant classification.

 

Deliverables

 

NYGC’s Clinical Laboratory returns results within 4-6 weeks on a standard basis, but can provide more rapid turnaround if needed. Results are sent to the physician and/or genetic counselor (due to the complexity of genetic testing and potential implications of the test results) who then discuss the results with the patient. The results of this test can become part of the patient’s medical record.

 

A report will be provided indicating the variants that could explain the clinical phenotype. In addition, the Clinical Laboratory will report secondary findings in medically actionable genes as per the American College of Medical Genetics and Genomics (ACMG) guidelines. Patients will also be able to “opt in” to learning their carrier status for select autosomal recessive genes and pharmacogenomic variants.

 

Ordering instructions

 

A physician can order the test using NYGC’s test requisition form and must obtain informed consent from each family member (in pediatric cases, the child’s parents) being tested. This test requires at least 2ml of blood drawn in an EDTA tube or saliva specimen collected in an Oragene Dx collection kit or DNA extracted in a CLIA-certified laboratory from each family member being tested (all samples submitted together whenever possible). Samples should be shipped to NYGC overnight via FedEx. A courier service may also be feasible.