Spinocerebellar Ataxia Type 7 Expansion Analysis

Test Information

Turnaround Time

21 days

CPT Code(s)

81181

Cost

$500

Genes

  • ATXN7

Methodology

Triplet repeat-primed PCR

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube - at least 2-3ml for pediatric patients and 5-6ml for adult patients. Saliva is also accepted.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal testing may be available in cases where one parent is known to have an expanded allele. Please contact the lab to discuss specific cases prior to sending a sample.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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