DEFINITION, ETIOLOGY & INVESTIGATIONS
DEFINITION
Newborn blood spot testing: a screening test performed on newborns to detect various genetic and metabolic conditions
ETIOLOGY
Genetic conditions:
- Autosomal recessive inheritance pattern for metabolic conditions
INVESTIGATIONS
Newborn blood spot test: – Performed day 5 post-delivery Screens for:
- Sickle cell anaemia
- Cystic fibrosis
- Congenital hypothyroidism
- 6 metabolic conditions: PKU, MCAD, maple syrup syndrome, homocystinuria, GA1, IVA