Thanatophoric Dysplasia
Analysis ID 22
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Thanatophoric Dysplasia
OMIM #187600
Clinical information Thanatophoric Dysplasia – (lethal dysplasia) – is one of the most common lethal skeletal dysplasia. This disorder is caused by the mutations in the FGFR3 gene. A single mutation (i.e. p.R248C) is responsible for 60% cases of this dysplasia.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes FGFR3 (e7)
Analysis description Sequencing analysis of the exon 7 of the coding sequence, including common p.R248C mutation (responsible for 60% cases of thanatophoric dysplasia).
Analysis indication Lethal dysplasia. Stillborn children with symptoms of lethal skeletal dysplasia (analysis may be performed on the specimen taken upon autopsy).
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders