Spinal Muscular Atrophy (SMN1/SMN2) MLPA Deletion/Duplication Analysis

CPT: 81329
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Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

2 - 4 weeks



Specimen Requirements


Specimen

Whole blood


Volume

4 mL


Minimum Volume

1 mL


Container

Lavender-top (EDTA) tube


Collection

Draw blood into EDTA tube.


Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.


Stability Requirements

Temperature

Period

Room temperature

5 days

Refrigerated

5 days

Frozen

Do not freeze


Causes for Rejection

Frozen blood EDTA tube


Test Details


Use

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.


Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Multiplex Ligation-dependent Probe Amplification


LOINC® Map

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

For Providers

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The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf