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ECEGEN
A family member supporting an individual living with SMA

ECEGEN Genetic Services

SMA Early Diagnosis & Carrier Test

Early diagnosis and carrier screening for SMA, a condition affecting motor neurons in the spinal cord.

SMA (Spinal Muscular Atrophy) is a genetic disease affecting motor neurons in the spinal cord, impairing essential abilities like walking, eating, and breathing. It leads to muscle weakness and wasting. Vision and hearing remain unaffected, and cognitive intelligence is normal or above average.

Also commonly known as Floppy Baby Syndrome.

Molecular laboratory workflow for SMA carrier analysis

When both parents are unaware carriers, the probability of having a child with SMA is 25% for each pregnancy.

Illustration showing spinal muscular atrophy and its gene association

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