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 $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 PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

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

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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

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.

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

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.

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