Spinal Muscular Atrophy (SMA) via MLPA of SMN1 and SMN2
Use
This test is for individuals with relevant features who have a clinical or suspected diagnosis of spinal muscular atrophy, as well as those with newborn screening results consistent with SMN1-related spinal muscular atrophy. It helps confirm the diagnosis by examining the SMN1 and SMN2 genes.
Special Instructions
This test is not intended for carrier screening in the general population and will not provide residual risk.
Limitations
The test does not determine carrier status or residual risk for spinal muscular atrophy. It may not detect all genetic variants related to SMA, and its results should be used alongside clinical evaluations.
New York Approved
Methodology
Other (Multiplex Ligation-Dependent Probe Amplification Assay)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided