Spinal Muscular Atrophy (SMA1) - LG6656
| Sunquest Code: | XMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Send Outs Misc Test |
| Synonyms: | SMA Screen | ||
| Methodology: | Sequencing | ||
| Turnaround Time: | Samples are sent to the reference laboratory Mon-Fri; results are reported within 14 days. | ||
| Special Instructions: | A signed informed consent inthe 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. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | Whole blood |
| Optimal Volume: | 5 mL |
| Minimum\Peds Volume: | 3 mL; 2 mL pediatric |
| Container: | Purple (EDTA) (Yellow (ACD, Solution A) tube available from laboratory) |
| Causes for Rejection: | Frozen specimen |
Processing and Shipping
| Specimen Processing: | Whole blood. Do not process. Store at refrigerated temperature. |
| Shipping Instructions: | Ship at refrigerated temperature to arrive within 2 days of collection. Do not freeze. |
| Stability: | 72 hours at room temperature; 7 days refrigerated. |
| Test Performed at or Referral Lab | Lab Sendouts (Ohio State University Wexner Medical Center JML Molecular Laboratory at Polaris) |
| Referral Lab number: | SMA Gene Dosage Analysis |
Interpretive
| Reference Range: | By report |
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