ARUP's Laboratory Test Directory

Glaucoma (Primary Congenital), CYP1B1 Sequencing : 0051476
[ image for: Patient History for CYP1B1 Glaucoma]
Patient History for CYP1B1 Glaucoma
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: CYP1B1

Ordering Recommendation: Diagnostic testing for primary congenital glaucoma. Carrier screening for primary congenital glaucoma.
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: Within 14 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: Background Information:
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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81404