Brittle Cornea Syndrome Panel
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 2683 | Genes x (2) | 81479 | 81479(x4) | $990 | 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 platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
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.
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.
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.
- 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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.