This test allows the detection of deletions or duplication in the DMD gene in genomic DNA isolated from human samples for the purpose of clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). This test can be additionally useful for carrier testing and potential for targeted treatment.
In the majority of Spinal Muscular Atrophy patients (>95%), the disease is caused by a homozygous loss of exon 7 of the SMN1 gene. This test allows the detection of deletions or duplication in the SMN1, SMN2 and exon 5 of the NAIP genes in genomic DNA isolated from human samples for the purpose of establishing or confirming a potential cause for and clinical diagnosis of Spinal Muscular Atrophy (SMA). This test can be additionally useful for carrier testing. Furthermore, the assay can be used for SMN2 (and NAIP) copy number determination in SMA patients to help prognosis and for treatment eligibility.
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