Primary Congenital Glaucoma via the CYP1B1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7619 CYP1B1 81404 81404,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7619CYP1B181404 81404, 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Primary congenital glaucoma (PCG) or Trabeculodysgenesis presents in neonates and during the infantile period, with a varying prevalence rate ranging from 1 in 1,250 to 20,000 among different geographic locations and ethnic groups. The highest prevalence is found in the Gypsy population of Slovakia (1 in 1,250) followed by Saudi Arabians (1:2,500), Southern India (1:3,300), and the Western nations (1:5000-22,000) (Gencík et al. 1982; Azmanov et al. 2011; Abu-Amero and Edward 2011). PCG is characterized by elevated intraocular pressure (IOP), increased corneal diameter (megalocornea), enlarged globe (buphthalmos), Haab’s striae (opacification of the cornea with ruptures involving Descemet’s membrane), corneal edema and optic nerve head cupping, thinning of the anterior sclera and atrophy of the iris. Symptoms include photophobia, blepharospasm (abnormal contraction of the eyelid), and hyperlacrimation (excessive tearing). Abnormal development of the anterior segment angle or goniodysgenesis are the hallmark of congenital glaucoma. It is a chronic disease and a major cause of blindness; early detection is needed in order to prevent vision loss (Martin et al. 2000; Abu-Amero and Edward 2011).

Genetics

Currently, mutations in CYP1B1 and LTBP2 have been reported to cause PCG with autosomal recessive inheritance (Abu-Amero et al. 2011; Abu-Amero and Edward 2011). Mutations in CYP1B1, located on chromosome 2p21, are the predominant cause of PCG. CYP1B1 encodes cytochrome P450 1B1 and mainly expressed in the trabecular meshwork (TM). CYP1B1 contributes to oxidative homeostasis, ultrastructural organization and function of TM (Zhao et al. 2013), which is considered to be affected in PCG (Stoilov et al. 1997). CYP1B1 was also reported as a modifier for Primary Open Angle Glaucoma (Acharya et al. 2006). So far, over 150 pathogenic variations (missense, nonsense, splicing, small and gross insertions and deletions) have been associated with PCG (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Abu-Amero et al detected CYP1B1 mutations in 75.9% of families (41 out of 54) with at least one affected member with PCG (Abu-Amero et al. 2011). Another molecular analysis of CYP1B1 identified three pathogenic variations in 78% (7/9) of the PCG index cases (El-Gayar et al. 2009).

Testing Strategy

This test provides full coverage of all coding exons of the CYP1B1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

All patients with symptoms suggestive of primary open angle, congenital, juvenile, or adult-onset glaucoma are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CYP1B1.

Gene

Official Gene Symbol OMIM ID
CYP1B1 601771
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Glaucoma, Congenital AR 231300

Related Test

Name
Axenfeld-Rieger Syndrome Panel

Citations

  • Abu-Amero KK, Edward DP. 2011. Primary Congenital Glaucoma. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301314
  • Abu-Amero KK. et al. 2011. Molecular Vision. 17: 2911-9. PubMed ID: 22128238
  • Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. 2006. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 12: 399–404. PubMed ID: 16688110
  • Azmanov DN. et al. 2011. European Journal of Human Genetics : Ejhg. 19: 326-33. PubMed ID: 21081970
  • El-Gayar S, Ganesh A, Chavarria-Soley G, Al-Zuhaibi S, Al-Mjeni R, Raeburn S, Bialasiewicz AA. 2009. Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. Molecular vision 15: 1325. PubMed ID: 19597567
  • Gencík A. et al. 1982. Human Genetics. 61: 193-7. PubMed ID: 7173860
  • Human Gene Mutation Database (Bio-base).
  • Martin SN. et al. 2000. Journal of Medical Genetics. 37: 422-7. PubMed ID: 10851252
  • Stoilov I, Akarsu AN, Sarfarazi M. 1997. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Human molecular genetics 6: 641–647. PubMed ID: 9097971
  • Zhao Y, Wang S, Sorenson CM, Teixeira L, Dubielzig RR, Peters DM, Conway SJ, Jefcoate CR, Sheibani N. 2013. Cyp1b1 mediates periostin regulation of trabecular meshwork development by suppression of oxidative stress. Mol. Cell. Biol. 33: 4225–4240. PubMed ID: 23979599

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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