Hypochondroplasia (HCH),analysis of thr 6 the most common mutations in the FGFR3 gene
Analysis ID 5
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Hypochondroplasia (HCH),analysis of thr 6 the most common mutations in the FGFR3 gene
OMIM #146000
Clinical information Hypochondroplasia (HCH) - autosomal dominant skeletal dysplasia characterized by dwarfism, limbs disproportion, wide hands and feet, as well as macrocephaly.
Type of analysis Molecular
Type of biological material 5 ml of the peripheral blood collected in the EDTA tube
Analyzed genes FGFR3; FIBROBLAST GROWTH FACTOR RECEPTOR 3
Analysis description Sequencing analysis of the most common mutations in the FGFR3 gene (fibroblast growth factor receptor–N540K, N540S, I538V, K650N, K650Q) located in the exons 13-15 of the gene. Analysed mutations cause up to 70% cases of HCH.
Analysis indication Growth deficiency, clinical suspicion of hypochondroplasia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders