Spinal Muscular atrophy carrier testing and newborn screening

Carrier testing, , - Carrier testing helps to identify parents of SMA patients, who are carrier of the mutated genes. This can help to predict the future pregnancies in the parents.


 * PCR-based dosage assay – Detect Carrier parents of patients with homozygous deletions or compound heterozygosity.


 * Sequencing of the SMN gene - Detect point mutations.


 * Other methods - family linkage analysis to identify the Parents genotype.

New Born screening may help to identify pre-symptomatic individuals and institution of early treatment (once it becomes available). This can prevent the occurrence of severe disease forms in future.