Oculodentodigital dysplasia
Analysis ID 25
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Oculodentodigital dysplasia
OMIM #164200
Clinical information Oculodentodigital dysplasia – symptoms for disorder include camptodactyly, syndactyly 4 th and 5th fingers, skeletal dysplasia, microphthalmia, enamel hypoplasia, spare and fine hair, as well dysmorphic facial features (long thin nose with hypoplastic alae nasi). Rarer symptoms comprise heart defects, central nervous system disorders, hypoacusis, glaucoma.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes GJA1 (Cx43)
Analysis description sequencing analysis of the GJA1 gene
Analysis indication symptoms of oculodentodigital dysplasia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders