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Brittle Cornea Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
2683 PRDM5 81479,81479 Order Options and Pricing
ZNF469 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
2683Genes x (2)81479 81479(x4) $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Brittle cornea syndrome (BCS) is a rare , generalized connective tissue disorder, which is characterized by keratoconus or keratoglobus, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints, blue sclerae, with extreme corneal thinning and a high risk of corneal rupture following a minor trauma (Rohrbach et al. 2013; Porter et al. 2015).

Genetics

So far, bi-allelic pathogenic variants in ZNF469 and PRDM5 are reported to cause autosomal recessive Brittle cornea syndrome. ZNF469 and PRDM5 are transcription factors that are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens (Porter et al. 2015). So far ~ 25 causative variants (missense, nonsense and small deletions and duplications) in ZNF469 and over 10 causative variants in PRDM5 (missense, nonsense, splicing and small and gross deletions) have been reported (Human Gene Mutation Database).

See individual gene test descriptions for more information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

A molecular screening of ZNF469 and PRDM5 in 23 Brittle cornea syndrome patients identified either homozygous or compound heterozygous causative variants in ZNF469 in 18 patients, and homozygous causative variants in PRDM5 in 4 patients (Rohrbach et al. 2013).

Testing Strategy

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

This panel provides 100% coverage of all coding exons of the genes 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

Patients with Brittle cornea syndrome are candidates.

Genes

Official Gene Symbol OMIM ID
PRDM5 614161
ZNF469 612078
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Brittle Cornea Syndrome 1 AR 229200
Brittle Cornea Syndrome 2 AR 614170

Related Test

Name
PGxome®

Citations

  • Human Gene Mutation Database (Bio-base).
  • Porter L.F. et al. 2015. Orphanet Journal of Rare Diseases. 10: 145. PubMed ID: 26560304
  • Rohrbach M. et al. 2013. Molecular Genetics and Metabolism. 109: 289-95. PubMed ID: 23680354

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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