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Genetic Testing of the CYP1B1 and MYOC Genes in Glaucoma
MYOC
CYP1B1
Primary Open Angle Glaucoma (POAG)
is the most common type of glaucoma, affecting about 37 million people. Based on the age of onset, POAG is divided into juvenile-onset POAG (JOAG) and adult-onset POAG. JOAG (age of onset 3–35 years) is associated with high intraocular pressure, visual field loss, and optic disc damage, and requires early surgical therapy.
Primary Congenital Glaucoma (PCG)
is a form of glaucoma commonly referred to as infantile or congenital glaucoma. The incidence of PCG varies geographically from 1/10,000 in Western countries to 1/2500 in the Middle East. It is the most common form of glaucoma in infants, with more than 80% of cases observed within the first year of life. It typically manifests at birth or within the first year of life, but may manifest as late as three years of age. Characteristic clinical features of PCG include tearing, photophobia, corneal edema and buphthalmos resulting from elevated intraocular pressure, which can rapidly lead to axonal loss and permanent loss of vision if left untreated.
Using genomic DNA obtained from a venous blood sample (1-5 mL in EDTA) or buccal swabs (GeneDx kit only), GeneDx will perform bi-directional sequence analysis of the coding exons and intron/exon boundaries of the MYOC and/or CYP1B1 genes. The sequencing test performed by GeneDx will detect all known mutation types in MYOC and CYP1B1 with the exception of large gene deletions.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
MYOC; CYP1B1; Glaucoma; POAG; PCG; JOAG; juvenile; congenital; eye; blindness; corneal edema; photophobia; light sensitivity; vision loss; axonal loss; visual field loss; vision loss, IOP; high IOP; optic disc; optic disc damage; optic damage; vision damage
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