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The aim of newborn screening is to detect diagnostic markers of treatable disorders in blood spots collected from pre symptomatic newborns.Early identification of disorders significantly improves long term prognosis of affected patients,minimise complications,avoids unnecessary diagnostic testing and identifies families for whom pre natal genetic counselling may be helpful.
G6PD
TSH
Phenyl alanine
Cystic fibrosis
17-Hydroxy Progesterone
Galactosemia
Biotinidase