Testing for Known Pathogenic Variant

Genes

All genes

Test Guide

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.

 

Methodology

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.

Specimen Requirements

BLOOD IS PREFERRED.

BLOOD:
2 EDTA (purple top) tubes
Adults: 5-10cc
Children: 3-5cc
Infants: 2-3cc

Whole blood may be stored up to 5-7 days in the refrigerator before shipping.

DNA:
Single site (known familial mutation or variant): 5 µg DNA

SALIVA:
Oragene Saliva samples are accepted

Special Instructions

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 mod@uw.edu) or the genetic counselors, Sam Bailey (206-543-5464 or sbailey3@uw.edu) or Dru Leistritz (206-543-5464 or dru2@uw.edu), 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

EXOME PANEL TEST REQUISITION FORM

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 & Cost

81479
$300.00

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