Targeted Variant Testing

Targeted variant testing (Sanger-sequencing based assay to confirm the variants identified by research studies for genetic diseases)

NYGC’s Clinical Laboratory provides Sanger sequencing service to independently confirm findings from single gene, panel, exome and/or genome sequencing performed on a research basis. This test can also be utilized to confirm if a known familial mutation is present.

Contact

For inquiries, please contact us.

Deliverables

NYGC’s Clinical Laboratory returns results within 2-3 weeks. A report will be provided indicating if the test detects the specified variant(s)

Ordering instructions

A physician can order the test using NYGC’s test requisition form and must obtain informed consent from the patient (in pediatric cases, the child’s parents) being tested. This test requires 5ml 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. Samples should be shipped to NYGC overnight via FedEx. A courier service may also be feasible.