Test Overview
MLPA probes hybridize to target regions of SMN1 and SMN2 genes and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and SMN1 and SMN2 copy numbers are generated.
Detection of the copy number (deletions/duplications) of the SMN1 and SMN2 genes in patients with a clinical diagnosis of Spinal Muscular Atrophy.
Interpretive report provided.
*Reference ranges may change over time. Please refer to the original patient report when evaluating results.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This assay will not detect point mutations or frame-shift mutations in SMN1 or SMN2 genes.
Test Details
Specimen Requirements
Cheek swab kit (Oracollect OCD-100), follow collection instructions.
Saliva kit (Oragene OGD-510), follow collection instructions.
This test is not currently orderable for MLABS clients.
2 Cheek Swabs
1 Saliva Kit
2 Cheek Swabs
1 Saliva Kit
Additional Information
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder. SMN1 and SMN2 are two highly-similar genes that have a critical role in defining SMA. SMN2 is much less efficient in making the SMN protein; therefore it is the SMN1 gene which is the determinant factor in SMA. Most patients with SMA are homozygous for a deletion or gene conversion of SMN1. The presence of multiple copies of SMN2 in patients homozygous for a deletion or gene conversion of SNM1 can modify the phenotype and lead to less severe disease.
Most insurance carriers require prior authorization for genetic testing. Testing will not begin until insurance prior authorization is received by the laboratory or it is confirmed that prior authorization is not required. The ordering health care provider can obtain the prior authorization or request the laboratory to submit it. To obtain BCN prior authorization call Joint Venture Hospital Laboratories (JVHL) at 800-445-4979; for all other insurances, contact the plan directly. By ordering this test the clinician acknowledges that informed consent, https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…, has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.