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.
NeoNat SCID-SMA Multiplex is a Real-Time PCR kit for the screening of SCID by semi-quantitative determination of TREC & KREC and SMA by measuring SMN1 & SMN2 in newborn’s DNA from DBS samples.