Early detection and screening of SCID-SMA is a vital health goal for infants
Severe combined immunodeficiency (SCID) is a group of rare inherited disorders caused by mutations in various genes involved in the development and function of immune cells that fight infection. SCID is characterized by T- and B-cell lymphopenias.
The NeoNat SCID SMA is a Real-Time PCR assay for screening Severe Combined Immunodeficiency (SCID) Syndrome and Spinal Muscular Atrophy (SMA) in newborns DNA from Dried Blood Spot (DBS) samples.
Early detection of Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) is vital for prevention of permanent disabilities or mortality of neonates. SCID is a congenital genetic disorder that causes life-threatening problems by supressing the immune system. This immunodeficiency occurs due to the lack of T cells, B cells and NK cells count. SMA is autosomal recessive disorder that causes neuromuscular disorder. This disorder is characterized by progressive degeneration and irreversible loss of lower motor neurons.
Spinal Muscular Atrophy (SMA) is the second most common autosomal recessive disorder which is characterized by the loss of motor function and muscle mass due to degeneration of neurons in the spinal cord and the brain stem.