Identifying children living with SMA through newborn screening allows for treatment to be started on time, preventing motor neuron death or a life with severe disability. Besides diagnosing SMA with a single qualitative test, SMN2 copy number assessment requires quantitative methodologies that are not easily implemented in most labs.
Alignment of clinical practices for SMN2 copy number determination is needed to assist in accurate diagnosis and optimal patient care. Read our report highlighting our affiliation with NBS as we strive to provide accurate SMA testing through various innovative solutions.
