Spinal muscular atrophy screening

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview
Carrier testing, , - Carrier testing helps to identify carriers of the mutated genes (SMN, survival motor neuron gene). This can help to predict the risk of SMA in future pregnancies in the carriers.


 * PCR-based dosage assay – Detect carriers 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.