Testing for Known Mutation/Familial Variant


All genes

Test Guide

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:

  1. A positive control (there will be no charge to test the positive control)
  2. A copy of the original mutation/variant report
  3. As much advance notice as possible

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.


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


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.

Single site (known familial mutation or variant): 1 µg DNA

Oragene Saliva samples are accepted

Amniocytes or Cultured CVS Cells: Two confluent T-25 flasks of cultured amniocytes or CVS cells, well-labeled as Prenatal Sample. Please call ahead to notify the CDL that a prenatal sample will be coming.

Special Instructions

For known familial mutations, please provide a copy of the original mutation 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 any samples used as positive controls.

Ship sample at room temperature with overnight delivery.

Related Tests

Prenatal Testing

CPT Code & Cost

Known Mutation Testing of COL1A1, COL1A2, TGFBR1, TGFBR2, FBN1 and ACTA2

81403Targeted mutation analysis for familial or known mutation, single exon

Known mutation testing of all other genes

81479Targeted mutation analysis for familial or known mutation, single exon


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University of Washington, UW Medicine Pathology.