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Spinal Muscular Atrophy (SMN1/SMN2) MLPA Deletion/Duplication Analysis
This assay is not currently available in New York state.
Expected Turnaround Time
2 - 4 weeks
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Lavender-top (EDTA) tube
Draw blood into EDTA tube.
Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.
Do not freeze
Causes for Rejection
Frozen blood EDTA tube
Mutations in the SMN1 gene cause all types of spinal muscular atrophy described above. The number of copies of the SMN2 gene modifies the severity of the condition and helps determine which type develops.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Multiplex Ligation-dependent Probe Amplification
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|620091||SMA MLPA Del/Dup Analysis||230163||Specimen Status||N/A|
|620091||SMA MLPA Del/Dup Analysis||620092||SMA MLPA Result||35462-1|
|620091||SMA MLPA Del/Dup Analysis||620093||SMA MLPA Interpretation||N/A|