The Northwest Clinical Genomics Laboratory (NCGL) offers targeted analysis for variants previously identified in our laboratory. Known pathogenic variant testing should be selected if such a variant was previously identified in the family by the NCGL (we tested a relative of the patient) and we have a positive control for that patient.
The Collagen Diagnostic Laboratory (CDL) offers targeted testing for previously identified sequence variants in a variety of genes.
“Known mutation/variant testing” should be selected on our test requisition form if a sequence variant was previously identified in the family by the CDL (we tested an affected relative of the patient) or by another laboratory. Known mutation/variant testing may also be ordered for individuals who wish to have clinical laboratory confirmation of variants identified through research laboratories.
Please contact our laboratory genetic counselor (Dru Leistritz, MS, CGC, phone: 206-543-5464, dru2@uw.edu) in advance before submitting a request to test for a variant in a gene not on the CDL test menu. For non-CDL genes, we ask for:
Turn-around time (TAT) is 7-10 business days for variants in genes on the CDL test menu, and 10-14 business days for variants in other genes.