Spinal Muscular Atrophy (SMA) is a debilitating genetic disorder characterized by the progressive loss of motor neurons, which leads to muscle weakness and paralysis. The underlying cause of SMA is the deficiency of the survival motor neuron (SMN) protein, primarily due to deletions in the SMN1 gene. A loss of one or both copies of the SMN1 gene can lead to the development of SMA.
qPCR, a precise DNA analysis technique, plays a crucial role in identifying SMA carriers. The VOLİRON SMA qPCR Test quantifies the number of copies of the SMN1 gene to determine whether an individual carries a defective copy (carrier) or has two normal copies. Early detection of carriers is vital for genetic counseling, prenatal diagnosis, and population screening. This early identification empowers individuals to make informed decisions regarding family planning and provides valuable data for SMA research.
The use of this test also plays an important role in the early detection of genetic diseases and the development of treatment strategies. Identifying diseases like SMA allows for better management of genetic counseling and clinical treatment. Early detection of carriers enables more effective preventative measures in families and communities to stop the spread of the disease.
Furthermore, the VOLİRON SMA qPCR Test contributes significantly to advancing research in the field of SMA. The application of this test aids in the development of new therapeutic strategies and in deepening our understanding of the disease, thus making vital contributions to the scientific community.