SCA 1 (ATXN1) Repeat Expansion DNA Test


Sunquest Code:SCA1  
Epic Code:LAB3726Epic Name:Spinocerebellar Ataxia Type 1 DNA Test
Synonyms:Spinocerebellar Ataxia Type 1 (SCA1)
Methodology:Repeat Expansion DNA Test
CPT Code:81178
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
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.
Test Performed at or Referral Lab Lab Sendouts  (Athena Diagnostics)
Referral Lab number:371


Interpretive

Reference Range:Normal: Less than 35 CAG trinucleotide repeats.
Use:Detects CAG triplet repeat expansion in the SCA1 gene.


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