SMA Awareness Month

August is SMA Awareness Month!

Spinal Muscular Atrophy (SMA) is a neuromuscular disease where the body loses control over the muscle movements. This happens due to insufficient survival motor neuron (SMN) protein. SMN protein ensures the health of motor neurons, responsible for transmitting signals from the brain to muscle cells. Early detection and treatment of SMA are vital for improved outcomes.

As the market leader in SMA tests, MRC Holland offers four different CE-marked assays for SMA diagnosis that fit the complete range of genetic testing needs:

• SALSA^® MC002 SMA Newborn Screen : This melt curve analysis based assay is a simple and affordable technique that utilises the fact that different genetic sequences have different DNA melting temperatures. The assay accurately determines the presence or absence of the SMN1 and SMN2 gene, reliably identifying SMA patients (0 SMN1 copies) - but not carriers (1 SMN1 copy).

• SALSA^® MLPA^® Probemix P021 SMA : This assay, widely considered to be the gold standard in SMA patient detection, is able to not only quantify the copy number of the clinically relevant SMN1 gene, but also SMN2, which is key for prognosis and patient management decisions.

• SALSA^® MLPA^® Probemix P060 SMA Carrier : This assay is intended to be used  for SMA carrier detection. With only targeting key sequences, the result interpretation is easier than SALSA^® MLPA^® Probemix P021 SMA and SALSA^® MLPA^® Probemix P460 SMA (Silent) Carrier.

• SALSA^® MLPA^® Probemix P460 SMA (Silent) Carrier : This assay is an extended version of the P060 SMA Carrier. P460 SMA (Silent) Carrier allows detection of two rare SMN1 polymorphisms (g.27134T>G and g.27706-27707delAT) which are risk factors for silent carriership of SMA (2+0 genotype).