Casandra
Casandra Test Code PG96888Version 1 (DRAFT)
Performing Lab
Lab Prevention GeneticsLab Test ID 6064
Spinal Muscular Atrophy (SMA) via MLPA of SMN1 and SMN2
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
New York Approved
Methodology
Other (Multiplex Ligation-Dependent Probe Amplification Assay)
Biomarkers
SMN1, SMN2
GeneGene Duplication/Deletion
Copy Number Alteration • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided