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Anterior Segment Dysgenesis via the CPAMD8 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
13033 CPAMD8 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
13033CPAMD881479 81479,81479 $890 Order Options and Pricing

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 backbone).

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Anterior segment dysgenesis (ASD) disorders are rare developmental disorders in which the anterior segment of the eye including the iris, cornea, lens and trabecular meshwork are affected and result in a spectrum of anomalies such as aniridia, cataracts and glaucoma that lead to visual disability in childhood (Ito and Walter. 2014. PubMed ID: 24433355; Brémond-Gignac et al. 2010. PubMed ID: 20806047; Semina et al. 2001. PubMed ID: 11159941).

ASD can be an isolated or a syndromic disorder with systemic defects. Onset varies from congenital, juvenile and later depending on type of disorder (Reis and Semina. 2011. PubMed ID: 21730847). The most common syndromic ASD disorders are Axenfeld–Rieger syndrome (ARS), Peters’ anomaly, and systemic anomalies including Alagille syndrome, SHORT syndrome and Pierson syndrome (Doucette et al. 2011. PubMed ID: 21150893). ASD is associated with a ~50% risk for glaucoma (Alward. 2000. PubMed ID: 11004268).

All the CPAMD8-associated ASD affected individuals show distinct ocular manifestations that include bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and cataracts (Cheong et al. 2016. PubMed ID: 27839872).

With the advent of gene therapy and other types of treatments, the identification of causative genes and variants is becoming increasingly important.

Genetics

Anterior segment dysgenesis (ASD) demonstrates both autosomal dominant and recessive patterns of inheritance, often with incomplete penetrance and variable expressivity (Alward. 2000. PubMed ID: 11004268; Cheong et al. 2016. PubMed ID: 27839872; Hollmann et al. 2017. PubMed ID: 28683140).

CPAMD8 is associated with a rare unique form of autosomal recessive Anterior segment dysgenesis. CPAMD8 encodes C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8, which has been shown to have spatiotemoporal expression (Cheong et al. 2016. PubMed ID: 27839872). RT-PCR and in situ hybridization revealed CPAMD8 is expressed in the iris, cornea, and embryonic neural retina, including strong expression in the distal tips of the retinal neuroepithelium that form the iris and ciliary body and weak expression in lens. These results were consistent with the CPAMD8 expression in the affected tissues. Impaired CPAMD8 function possibly disrupts the normal development of the lens and iris structures (Cheong et al. 2016. PubMed ID: 27839872). CPAMD8 has been cited as a nonessential gene for growth of human tissue culture cells (Online Gene Essentiality, ogee.medgenius.info).

CPAMD8 is associated with Morgagnian cataract in cattle, which suggests a role in lens development (Hollmann et al. 2017. PubMed ID: 28683140; Braun et al. 2019. PubMed ID: 31877171

So far, about 5 causative variants (missense, splicing, small frameshift deletions and insertions) have been reported in CPAMD8. No de novo variants have been documented to date (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Predicting clinical sensitivity for the CPAMD8 gene is challenging due to genetic heterogeneity and the limited number of reported cases. All the documented causative variants are detectable by this NGS technology.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the CPAMD8 gene plus 10 bases flanking noncoding DNA in all available transcripts in addition to 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

All patients with symptoms suggestive of Anterior segment dysgenesis are candidates. Carrier testing is available for individuals with a family history of the disease and for the reproductive partners of individuals who carry pathogenic variants in CPAMD8.

Gene

Official Gene Symbol OMIM ID
CPAMD8 608841
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Alward. 2000. PubMed ID: 11004268
  • Braun et al. 2019. PubMed ID: 31877171
  • BrĂ©mond-Gignac et al. 2010. PubMed ID: 20806047
  • Cheong et al. 2016. PubMed ID: 27839872
  • Doucette et al. 2011. PubMed ID: 21150893
  • Hollmann et al. 2017. PubMed ID: 28683140
  • Human Gene Mutation Database (Bio-base).
  • Ito and Walter. 2014. PubMed ID: 24433355
  • Online Gene Essentiality (OGEE).
  • Reis and Semina. 2011. PubMed ID: 21730847
  • Semina et al. 2001. PubMed ID: 11159941

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.
  • 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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


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.

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