Washer Module

Galactosemia is an inherited metabolic abnormality comprising three distinctive clinical entities of the galactose pathway defects. Classic galactosemia is due to -Dgalactose- 1-phosphate-uridyl-transferase (GALT) defect (1). The test principle is based on extraction of Galactose & Galactose-1-phosphate from dried blood spot followed by enzymatic conversion of Galactose-1-phosphate & Galactose. Two kinds of extraction methods (acidic and heat) can be used for extraction step.

Cystic Fibrosis (CF) is an autosomal recessive disorder affecting the lungs, pancreas, intestine and liver. CF is the most common in Caucasians with an incidence rate 1:2500 newborns. CF is caused by mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CTFR) [1,2]. Large-scale neonatal screening for CF is performed by indentification of increased levels of immunoreactive trypsinogen (IRT) in blood.