Galactosemia
Analysis ID 185
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Galactosemia
OMIM 230400
Clinical information Classic form of galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present with neonatal symptoms, which occur once breast feeding starts. The symptoms include hepatosplenomegaly, jaundice, food intolerance, hypoglycemia, renal dysfunction, muscular hypotonia, sepsis, and cataract. Long-term complications include mental retardation, delayed psychomotor development, and hypergonadotropic hypogonadism.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes GALT
Analysis description Testing for the most common Q188R mutation in the GALT gene
Analysis indication Symptoms of galactosemia
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics