SMN1 & SMN2 Genetic Testing

Comprehensive genetic testing for accurate diagnosis and informed care decisions.

Key Clinical Insights

Approximately 95% of SMA patients have a homozygous deletion of the SMN1 gene.
SMA severity is strongly associated with the SMN2 copy number.
Higher SMN2 copy numbers are associated with milder disease phenotypes.
Early identification of SMN1 and SMN2 variants supports accurate diagnosis, genetic counselling, and appropriate clinical management.

Applications

This test is recommended for:
Confirming suspected Spinal Muscular Atrophy (SMA).
Carrier testing and family screening.
Determining SMN2 copy number for prognosis and treatment planning.