Spinal Muscular Atrophy (SMA)

Service Description

This test involves the use of Multiplex Ligation-dependent Probe Amplification (MLPA) to detect SMA genetic disorder that affects the motor neurons in the spinal cord and brainstem. It is caused by a mutation in the SMN1 gene, which produces a protein called survival motor neuron (SMN). Without enough SMN protein, motor neurons can't function properly and eventually die, leading to muscle weakness and atrophy. SMA is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated SMN1 gene (one from each parent) to develop the disorder. There are several different types of SMA, ranging from severe forms that present in infancy to milder forms that present in adulthood. In addition to the SMN1 gene, there is a related gene called SMN2 that can produce small amounts of SMN protein, which can help to mitigate the effects of SMN1 mutations. SMA is a relatively common genetic disorder, with an estimated incidence of 1 in 6,000 to 1 in 10,000 live births. Sample: BLOOD Results: 2 WEEKS Phlebotomy fee: Included in price Code: E-G26-2WKS

Cancellation Policy

To cancel or schedule, please contact us 24 hours in advance

Contact Details

• 305 Neasden Lane, London NW10 1QR, UK

  02071268511

  info@ejbio.co.uk