SCA 1 (ATXN1) Repeat Expansion DNA Test
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order Name: | Spinocerebellar Ataxia Type 1 DNA Test |
| Synonyms: | Spinocerebellar Ataxia Type 1 (SCA1) | ||
| Methodology: | Repeat Expansion DNA Test by PCR. | ||
| CPT Codes: | 81178 x1 | ||
| 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: | |||
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: | 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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