Genes
All genes
Test Guide
Known pathogenic variant testing should be selected if such a variant was previously identified in the family by the laboratory (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
SALIVA:
Oragene Saliva samples are accepted
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): 1 µg DNA
CPT Code & Cost
The cost of exome sequencing through the NCGL ranges from $900 to $5000. To receive the most accurate pricing, please contact the Genetics Pre-Authorization Billing group (gpab@uw.edu).
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