Testing for Known Pathogenic Variant

Genes

All genes

Test Guide

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.

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

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 the genetic counselor, 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

Laboratory 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
$350.00

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University of Washington, UW Medicine Pathology.