Spinal Muscular Atrophy (SMA) Prenatal Screen Copy Number Analysis
| Abbrev Code: | ARMISC | ||
| Order Code: | LAB4909 | Order Name: | Send Outs Misc Test |
| Synonyms: | SMA Screen; Carrier Screening; Prenatal or Preconception Carrier Screening for SMA | ||
| Methodology: | Multiplex ligation-dependent probe amplification | ||
| CPT Codes: | 81401 x1 | ||
| Turnaround Time: | Samples are sent to the reference laboratory Mon-Sat; results are reported within 14 days. | ||
| Special Instructions: | A Patient History for SMA form must accompany each sample. See Associated Links. 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. | ||
| Compliance: | For tests developed and validated by ARUP (previously referred to as Compliance Statement B, C or D). This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes. |
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| Associated Links: | |||
Collection Instructions
| Specimen: | Whole blood |
| Optimal Volume: | 3 mL |
| Minimum\Peds Volume: | 2 mL |
| Container: | Purple (EDTA) Alternate Containers: 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 (ARUP) |
| Referral Lab number: | 2013436 |
Interpretive
| Reference Range: | By report. |
| Use: | Diagnostic testing to confirm a suspected diagnosis of spinal muscular atrophy (SMA). Prenatal or preconception carrier screening for SMA in the general population. Carrier screening for reproductive partner of know SMA carrier. Carrier screening for parents of a child with a deletion of the SMN1 gene or other family history of SMA. |
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