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Congenital Cataract, Microcornea, and Corneal Opacity (CCMCO) via the PXDN Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
PXDN 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3933PXDN81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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


Genetic Counselors


  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Cataracts are described as opacification of the crystalline lens of the eye that result in abnormal refraction index and light scattering. Congenital cataracts (CC) are a serious and leading cause of reversible blindness in childhood. They account for one-tenth of the cases of childhood blindness (Francis and Moore. 2004. PubMed ID: 14743013). Estimated prevalence rate is 1-6 per 10,000 live births. Early diagnosis and surgery and optical correction have resulted in an improved outcome for infants with either unilateral or bilateral cataracts (Lambert and Drack. 1996. PubMed ID: 8724637). PXDN-associated cataracts (Congenital cataract, microcornea, and corneal opacity-CCMCO) has been described as bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and cataracts (Cheong et al. 2016. PubMed ID: 27839872).


CCMCO is an autosomal recessive disorder that is caused by pathogenic variants in the PXDN gene. To date, over 10 pathogenic PXDN variants have been reported, which are missense, nonsense, splicing, and small frameshift deletions (Human Gene Mutation Database).

PXDN encodes Peroxidasin, which is an extracellular matrix-associated protein with peroxidase catalytic activity. Peroxidasin is shown to localize to the cornea and lens epithelial layers, and is essential for normal development of the anterior part of the eye and acts to protect the lens, trabecular meshwork, and cornea against oxidative damage (Khan et al. 2011. PubMed ID: 21907015).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity and limited number of cases, predicting clinical sensitivity is challenging. However, PXDN does not appear to be a common cause of congenital cataracts. Analytical sensitivity should be high because all of the pathogenic variants reported are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the PXDN gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

The ideal PXDN test candidates are individuals who present with congenital cataract, microcornea, and corneal opacity. PXDN sequencing should be also considered in in patients with atypical presentation of microphthalmia with anterior segment dysgenesis (Choi et al. 2015. PubMed ID: 24939590). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PXDN.


Official Gene Symbol OMIM ID
PXDN 605158
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Corneal Opacification and Other Ocular Anomalies AR 269400


  • Cheong et al. 2016. PubMed ID: 27839872
  • Choi et al. 2015. PubMed ID: 24939590
  • Francis and Moore. 2004. PubMed ID: 14743013
  • Human Gene Mutation Database (Bio-base).
  • Khan et al. 2011. PubMed ID: 21907015
  • Lambert and Drack. 1996. PubMed ID: 8724637


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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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