Glaucoma (Primary Congenital), CYP1B1 Sequencing
Ordering Recommendation

Diagnostic testing or carrier screening for primary congenital glaucoma and related disorders.

Polymerase Chain Reaction/Sequencing
10-14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
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 
Reference Interval
By report
Interpretive Data
Background Information:
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.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
0051475Primary Congenital Glaucoma, Sequencing
2001349CYP1B1 Specimen
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  • CYP1B1 sequencing