Disease and carrier tests with DNA fragment analysis are available in our Center for Spinal Muscular Atrophy (SMA), which is a frequently observed and genetic disease.

The disease is caused by the deletion of SMN1 gene zone and the copy amount of SMN2 gene zone help in identifying the severity and consequently the sub-group of the disease which has 4 different subtypes.

• For the couples considered to be porter, the final diagnosis can be made for SMA by examining only SMN1 zone.
• SMN1 and SMN2 genes are examined with MLPA analysis in children with the disease and also the deletions in BIRC gene zone can be determined.