Glaucoma (Primary Congenital), CYP1B1 Sequencing
0051476
Ordering Recommendation
Diagnostic testing or carrier screening for primary congenital glaucoma and related disorders.
Mnemonic
CYP1B1
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
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
- 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.
- Unacceptable Conditions
- Remarks
- Stability
- 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. Diagnostic errors can occur due to rare sequence variations.
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.
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.
Note
CPT Code(s)
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0051475 | Primary Congenital Glaucoma, Sequencing | |
| 2001349 | CYP1B1 Specimen |
Aliases
- CYP1B1 sequencing