SMN1-2 Ex 7,8 MLPA Shadow
SMN1-2 Ex 7,8 MLPA Analysis
Spinal Muscular Atrophy Types I, II, III
Survival Motor Neuron 1
Infantile Muscular Atrophy
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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.
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….