Diagnostic testing or carrier screening for primary congenital glaucoma and related disorders.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: High intraocular pressure, globe enlargement and edema, corneal opacification, thinning of anterior sclera, iris atrophy, anomalous deep anterior chamber, photophobia, blepharospasm, and excessive tearing.
Incidence: 1:5,000-20,000 individuals in Western countries; varies in other ethnicities.
Inheritance: Autosomal recessive.
Cause: Two Cytochrome P4501B1 (CYP1B1) gene mutations.
Clinical Sensitivity: 20-100% in familial cases, 10-15% in isolated cases.
Methodology: Bidirectional sequencing of the entire CYP1B1 coding region, intron-exon boundaries and 5 prime untranslated region.
Analytical Sensitivity and Specificity: 99%
Limitations: Large gene deletions/duplications and deep intronic mutations will not be detected. Diagnostic errors can occur due to rare sequence variations.
|Component Test Code*||Component Chart Name||LOINC|
|0051475||Primary Congenital Glaucoma, Sequencing|
- CYP1B1 sequencing