SCA17 (TPB) Repeat Expansion DNA Test


Sunquest Code:SCA17  
Epic Code:LAB3729Epic Name:Spinoverebellar Ataxia Type 17
Methodology:Repeat expansion detection by PCR
CPT Code:81479
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:388


Interpretive

Reference Range:Normal: Less than 42 CAG/CAA trinucleotide repeats.
Use:Detects CAG/CAA trinucleotide repeat expansions in the SCA17 gene.


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