AMD Human Spinal Muscular Atrophy (SMA)

Overview.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by loss of motor neurons in the anterior horn of the spinal cord and subsequent system-wide atrophy of skeletal muscles and progressive muscle wasting, often leading to early death. The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells and necessary for the survival of motor neurons.

Product Details:

The kit contains an in vitro real-time PCR  assay for the qualitative determination of spinal muscular atrophy (SMA) in human samples such as EDTA-blood, isolated DNA (not FFPE) and saliva. It is based on hydrolysis probe detection and is a highly sensitive qPCR kit.

Quality:

All AMD kits are manufactured using high quality standard methods and unique precision, comparable with other leading commercial spinal muscular atrophy (SMA) diagnostic kits.

Sensitivity: 

The AMD Spinal Muscular Atrophy (SMA) kit is very sensitive under our validation methods and devices.

Specificity:

AMD Spinal Muscular Atrophy (SMA) kit is  up to 100% specific for spinal muscular atrophy (SMA) under our validation methods and devices.

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