Juvenile-onset glaucoma
Analysis ID 139
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Juvenile-onset glaucoma
OMIM #231300
Clinical information Juvenile-onset glaucoma is the most common autosomal recessive glaucoma occurring in children. It is characterized by early onset of symptoms (before 3 years of age), increased ocular pressure, and increased pupil diameter. The disease is chronic and leads to a loss of vision in children.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes CYP1B1
Analysis description Analysis of the coding sequence of Cyp1B1gene
Analysis indication Juvenile-onset glaucoma
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders