Self Sustaining Diagnostics(ssd)

Self Sustaining Diagnostics

Genetic testing for DMD/BMD and SMA is carried out by MLPA and PCR-RFLP method respectively. The diagnostic work was initiated as self-sustaining project from April 2015. A total of 332 individuals and their families utilized the diagnostic services (101 clinically suspected SMA samples and 231 clinically suspected DMD samples). Molecular diagnosis was positive for 56 SMA samples and 121 DMD samples. A total of 204 individuals and their families availed the services for genetic counselling and testing for the movement disorders (HD/FRDA/SCA) of which 78 individuals were confirmed by genetic testing.