Brittle Cornea Syndrome Panel
Summary and Pricing 
Test Method
Exome Sequencing with CNV DetectionTest Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
---|---|---|---|---|---|
2683 | Genes 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.
A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.
For Reflex to PGxome pricing click here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Turnaround Time
18 days on average
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.
Testing Strategy
This panel provides full 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).
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).
Indications for Test
Patients with Brittle cornea syndrome are candidates.
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 
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

ORDER OPTIONS
View Ordering Instructions1) 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.