Achondroplasia (ACH)
Analysis ID 4
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Achondroplasia (ACH)
OMIM #100800
Clinical information Achondroplasia is an autosomal dominant genetic disorder. It includes skeletal growth deficiency (endochondral ossification disorders). People affected by this disease have short stature, osseous/skeletal abnormalities, (abnormal body proportion, reduced limbs in relation to trunk length , backbone curvature, knees varua and characteristic facial dysmorphism. Intellectual development is normal (except for patients accompanied with hydrocephalus).
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes FIBROBLAST GROWTH FACTOR RECEPTOR 3 (FGHF3)
Analysis description Sequencing analysis of the most common mutations G380R and G375C in the FGFR3 gene.
Analysis indication Dwarfism, limbs shortened with dysmorphic features, which suggest ACH.
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders