The test is proposed to determine the carrier status in relatives of affected individuals and in the partner of those who were found to be carriers for the purposes of family planning.
What the test detects
The test looks for deletions in exons 7 and 8 of the SMN1 gene.
What variants cause
Deletions in exons 7 and 8 of the SMN1 gene determine the carrier status of Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, i.e. when both parents are carriers there is a 25% chance of having an affected child.
How testing works
The test consists in performing a blood sample, in the extraction of genomic DNA and in the search for deletions in the SMN1 gene using MLPA technology.