SMN1 / SMN2 testing
Spinal muscular atrophy.
This test is used to detect SMN1 and/or SMN2 genes deletion. Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Loss of functional production of SMN protein most commonly occurs by deletion of SMN1 and/or SMN2 genes, either by homologous recombination or gene conversion (95% of SMA alleles). The remaining 5% of SMA alleles harbor point mutations in the SMN1 gene(s) that effectively eliminates the production of functional SMN protein from those gene copies.More