Repeat Expansion DNA Test, specify gene(s) SCA1, SCA2, SCA3, SCA6, SCA7, SCA8
Abbrev Code: | XMISC | ||
Order Code: | LAB4909 | Order 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. |
Click HERE to Report test errors or omissions.
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