The Northwest Clinical Genomics Laboratory (NCGL) offers targeted analysis for previously identified pathogenic variants in all of the genes we sequence.
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) or by another laboratory (please provide a copy of the original mutation report if testing was not completed at our laboratory). Known pathogenic variant testing may also be ordered for individuals who wish to have clinical laboratory confirmation of pathogenic variants identified through research laboratories.
Sanger Sequencing: The coding exon and flanking intron sequences known to contain the variant are amplified by PCR in a single reaction and then sequenced by automated sequencing.
BLOOD IS PREFERRED.
BLOOD: 2 EDTA (purple top) tubes
Whole blood may be stored up to 5-7 days in the refrigerator before shipping.
Single site (known familial mutation or variant): 5 µg DNA
Oragene Saliva samples are accepted
For known familial pathogenic variants, please provide a copy of the original report if testing was not completed at our laboratory.
If testing was not completed at our laboratory, and a positive control sample is available, there will be no charge to test samples used as positive controls.
Ship sample at room temperature with overnight delivery.
How to Order
It may be helpful for the clinician to phone or contact us to discuss the patient with the laboratory director, Dr. Michael Dorschner (206-685-5488 or email@example.com) or the genetic counselors, Sam Bailey (206-543-5464 or firstname.lastname@example.org) or Dru Leistritz (206-543-5464 or email@example.com), to determine if testing is appropriate and which test to select. After selecting the test, please follow these steps to order it:
1. Complete Required Forms
2. Complete Billing Information (third page of Requisition Form)
3. Collect Specimen
4. Ship specimen to NCGL
Center for Precision Diagnostics
Northwest Clinical Genomics Laboratory
1959 NE Pacific St., HSC H-561
Seattle, WA 98195
5. Receive Results
Results will be faxed to you at the contact points you provided on the requisition form.
Note: Orders cancelled after they have been submitted will incur a prorated charge based on the work that has been completed as of the time of cancellation.
CPT Code & Cost81479