Spinocerebellar Ataxia Expansion Panel

Test Information

This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of spinocerebellar ataxia, and it is performed by trinucleotide repeat expansion analysis.

Turnaround Time

21 days

CPT Code(s)

81178, 81179, 81180, 81184, 81181

Cost

$1,100

Genes

  • ATXN1
  • ATXN2
  • ATXN3
  • ATXN7
  • CACNA1A

Clinical Information

Spinocerebellar ataxia (SCA) refers to a group of neurodegenerative disorders that affect the cerebellum, the region of the brain that controls the coordination of movement. SCA is marked by progressive ataxia or poor coordination of movement. Other features include unsteady gait, poor hand coordination, involuntary eye movements, and slurred speech. Cognitive decline can be seen in certain types of SCA. The age of onset of SCA is extremely variable and ranges from childhood to late adulthood. Trinucleotide repeat expansions are one genetic cause for SCA with SCA 1, 2, 3, 6, and 7 accounting for ~60% of dominant ataxias in North America. These ataxias result from trinucleotide repeat expansion, and the size of the repeat expansion is typically correlated with age on onset and rate of progression.

Methodology

Triplet repeat-primed PCR

Detection

Trinucleotide repeat expansion in one of these genes is responsible for approximately 60% of spinocerebellar ataxias.

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.

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
Falecia Thomas, MS, CGC

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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