Fuhrmann syndrome
Analysis ID 74
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Fuhrmann syndrome
OMIM #228930
Clinical information Fuhrmann syndrome is a rare autosomal recessive genetic disorder. The syndrome is mainly characterized by limb developmental malformation (limb hypoplasia), with hypoplastic radial bones, femoral abnormalities, split hand-foot malformation, oligodactyly, syndactyly, polydactyly, and others.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes WNT7A
Analysis description Sequencing analysis of the WNT7A gene
Analysis indication Symptoms of Fuhrmann Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders