Clinical Testing of Collagen Type VI-Related Disorders

We test for mutations in three genes related to Ullrich congenital muscular dystrophy and Bethlem Myopathy: COL6A1, COL6A2, and COL6A3 (see GeneReview). You will be responsible for the costs of having the blood drawn, and for shipping it by overnight courier to the University of Utah Genome Center. In order for your sample to be processed, you need to send along the information/billing and DNA testing consent form.

Methodology

Fluorescence-based, bidirectional Sanger dideoxy sequencing of PCR amplicons spanning all coding regions and intron/exon boundaries for:

  • COL6A1 gene
  • COL6A2 gene
  • COL6A3 gene

Capillary electrophoresis is performed using an ABI 3730xl DNA Analyzer.

Costs

  • $2,400 Direct sequencing analysis of the COL6A1, COL6A2, and COL6A3 genes
  • $250 Sequencing of a single exon (For family members of patients with previously detected mutations)

Results

Your physician will receive results by e-mail and mail in approximately six (6) to eight (8) weeks.

Ordering Procedure

  1. Print out the information/billing and DNA testing consent form for Ullrich and Bethlem Myopathy. You and your physician must fill out the form and send it along with the blood sample.
  2. Print out the UofU blood shipping instructions and take them with you to your doctor or a blood drawing laboratory.
  3. Print out the CPT Codes for insurance claims.

Disclosure

You are responsible for the cost of the test and payment must accompany the sample. If you have insurance, you may be able to submit the bill for the test to your insurance company for reimbursement. We do not bill your insurance company. Payment must be made in US dollars

It is possible that we will be unable to detect a mutation in the gene. You are still responsible for paying the costs of the test.

If you have questions about this testing please contact:

Diane Dunn, B.S.

Laboratory Supervisor

Phone: (801) 585-3436