NeoNat SCID-SMA
Through research in 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 disorder that causes life-threatening problems by the lack of T cells, B cells, NK cells causing immunodeficiency.
SMA is an autosomal recessive disorder that causes a neuromuscular disorder characterized by progressive degeneration and irreversible loss of lower motor neurons.
Screening for Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) by Real-Time PCR by measuring SMN1 & SMN2 in newborn DNA from DBS samples.

Genes Targeted
- T-Cell Receptor Excision Circle (TREC) and Kappa Deleting Recombination Excision Circle (KREC) for SCID
- Survival Motor Neurons 1 & 2 (SMN1, SMN2) for SMA, along with internal controls

Assay Features
- Efficient workflow from DNA extraction to the result
- Ready-to-use reaction mix
- DBS controls with defined copy numbers
- DBS calibrators included in the kit
- Quick turnaround time of 2 hours
- Compatible with various Real-Time PCR instruments
- 100% clinical sensitivity and specificity