SCA 8 (ATXN8OS) Repeat Expansion DNA Test

Sunquest Code:SCA8  
Epic Code:LAB3735Epic Name:Spinocerebellar Ataxia Type 8
Synonyms:Spinocerebellar Ataxia Type 8 (SCA8)
Methodology:Repeat Expansion detection by PCR. Southern Blot.
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 14-21 days.
Special Instructions:Contact Molecular Diagnostic Genetic Counselor at 612-624-8948 (or 1-800-888-8642, ext. 4-8948) for complete instructions prior to collecting the specimen. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. See Associated Links.
Associated Links:

Genetic Testing Consent Form

Collection Instructions

Specimen:Whole blood
Optimal Volume:8 mL
Minimum\Peds Volume:6 mL
Container:Purple (EDTA)
Causes for Rejection:Frozen specimen; consent form not provided; Genetic counselor will notify referring physician of any missing requirements.

Processing and Shipping

Specimen Processing:Do not process. Store at room temperature or refrigerated.
Shipping Instructions:Ship at room temperature. Protect from temperature extremes.
Stability:10 days at room temperature or refrigerated.
Test Performed at or Referral Lab Lab Sendouts  (Athena Diagnostics)
Referral Lab number:384


Reference Range:Normal: Less than 50 CTA/CTG trinucleotide repeats.
Use:Detects CTA/CTG triplet repeat expansion in the SCA8 gene.

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