Information for Spinocerebellar Ataxia CAG Repeat Expansion Panel
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
Genomic DNA is purified from peripheral blood samples followed by gene-specific polymerase chain reaction (PCR) of the CAG repeat region using a 5′ fluorescently labeled primer and a 3′ unlabeled flanking primer. The CAG repeat number in each allele is determined by fragment length analysis on a capillary electrophoresis instrument (ABI 3730xl DNA analyzer with a GeneScan 500 LIZ Size Standard). Expanded and homozygous alleles are confirmed by triplet-repeat primed PCR and sizing by capillary electrophoresis.
Ordering Procedure
- Print out the information/billing and DNA testing consent form for SCA repeat expansions. You and your physician must fill out the form and send it along with the blood sample.
- Print out the UofU blood shipping instructions and take them with you to your doctor or a blood drawing laboratory.
- Print out the CPT Codes for insurance claims.
Costs
- $550 CAG repeat expansion panel including SCA1, SCA2, SCA3, SCA6, SCA7 and SCA 17
- $400 Individual repeat expansion test for SCA1, SCA2, SCA3, SCA6, SCA7, SCA 17 or SBMA
- $300 Testing for family members of patients with previously detected mutations
Results
Your physician will receive results by e-mail and mail in approximately three (3) to four (4) weeks.
If you have questions about this testing please contact Diane Dunn (Laboratory Supervisor) at (801) 585-3436.
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.
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