FRUCTOSE INTOLERANCE, HEREDITARY
Analysis ID 48
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness FRUCTOSE INTOLERANCE, HEREDITARY
OMIM #229600
Clinical information FRUCTOSE INTOLERANCE, HEREDITARY – autosomal, recessive genetic disorder. Symptoms occur when saccharose rich products are included into patient’s diet. Clinical features result from hypoglycaemia (sweating, somnolence, convulsions). Vomiting, stomachache, reduced weight and height may be also present.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes ALDOB; Fructose-1,6-bisphosphate aldolase B
Analysis description Sequencing analysis of the ALDOB (two common mutations A150P i A175D)
Analysis indication Symptoms of fructose intolerance
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics