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SMA Plus
Test Code92951
CPT Codes
⁠⁠⁠⁠⁠⁠⁠<br>*** RESTRICTED USE *** This code is available for Client #54840, 55738, 56176, 51618, 51921, 57748, 55851, 53814, 57807, 57814 and 54329 ONLY.
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Includes
Reflex TC 92951-2 SMN1 Gene Sequence may be performed at an additional charge
Preferred Specimen
Adult: 4 mLwhole blood collected in an EDTA (lavender-top) tube
Pediatric (0-3 years): 2 mL collected in a pediatric EDTA (lavender-top) tube (3 mL recommended)
Pediatric (0-3 years): 2 mL collected in a pediatric EDTA (lavender-top) tube (3 mL recommended)
Minimum Volume
2 mL (Pediatric: 1 mL)
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Quantitative PCR • Sanger Sequencing
Setup Schedule
Report available: 14-21 days
Clinical Significance
Detects copy number (dosage) of the SMN1 and SMN2 genes. Sequencing is performed reflexively when a single copy of SMN1 is found.