Repeat Expansion DNA Test, specify gene(s) SCA1, SCA2, SCA3, SCA6, SCA7, SCA8


Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Misc Send Outs Test
Order Instructions:See request form from reference laboratory (Assoc Links). Specify the name of all genes requested and create one order for each gene.
Synonyms:Spinocerebellar Ataxia Type I (SCA1)
Methodology:Repeat expansion DNA test
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:

University of Chicago Requisition Form, Genetics Testing Consent Form


Collection Instructions

Specimen:Whole blood
Optimal Volume:10 mL
Minimum\Peds Volume:3 mL
Container:Purple (EDTA)
Collection Instructions:Also acceptable: T-25 cultured cells; DNA samples from the lab.
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.
Shipping Instructions:Ship at room temperature to arrive Mon-Fri. Protect from temperature extremes.
Stability:10 days at room temperature or refrigerated.
Test Performed at or Referral Lab Lab Sendouts  (University of Chicago Genetic Services)
Referral Lab number:4101 (includes SCA1, SCA2, SCA3, SCA6, SCA7, SCA8) each alone is 4103


Interpretive

Reference Range:By report.
Use:Detects CAG triplet repeat expansion in the SCA1 gene.


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