MFRP-Related Oculopathy via the MFRP Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 11471 | MFRP | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.
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).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.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
MFRP-related oculopathy consists of posterior microphthalmia with high myopia, retinitis pigmentosa, foveoschisis, and optic disc drusen (Ayala-Ramirez et al. 2006; Mukhopadhyay et al. 2010)
Genetics
MFRP-related oculopathy is an autosomal recessive condition caused by mutations in MFRP (Ayala-Ramirez et al. 2006; Crespí et al. 2008; Sundin et al. 2005). MFRP, which is located on chromosome 11q23, encodes a type II transmembrane protein with frizzled-type cysteine-rich domain (CRD) called membrane-type frizzled-related protein (MFRP). MFRP is selectively expressed in the retinal pigment epithelium (RPE) and ciliary body. CRD is a binding motif for soluble-type glycoprotein WNTs. It has been reported that the Wnt/Frizzled signaling components are expressed in the developing retina and have multiple roles during retinal development (Katoh 2001; Van Raay and Vetter 2004). MFRP may have a role in regulation of ocular axial length (Sundin et al. 2005). So far about 10 causative mutations have been reported in MFRP, which include missense, nonsense, splicing, small deletions and insertions (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PGxome
Clinical sensitivity cannot be estimated because only a small number of patients have been reported.
Testing Strategy
This test provides full coverage of all coding exons of the MFRP gene 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
All patients with symptoms suggestive of MFRP-related oculopathy are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MFRP.
All patients with symptoms suggestive of MFRP-related oculopathy are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MFRP.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| MFRP | 606227 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Microphthalmia, Isolated 5 | AR | 611040 |
Citations
- Ayala-Ramirez R. et al. 2006. Molecular Vision. 12: 1483-9. PubMed ID: 17167404
- Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz-Cascajosa J, Ayala-Ramírez R, Zenteno JC. 2008. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. Am. J. Ophthalmol. 146: 323–328. PubMed ID: 18554571
- Human Gene Mutation Database (Bio-base).
- Katoh M. 2001. Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein. Biochem. Biophys. Res. Commun. 282: 116–123. PubMed ID: 11263980
- Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, others. 2010. A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. Molecular vision 16: 540. PubMed ID: 20361016
- Sundin OH, Leppert GS, Silva ED, Yang J-M, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, others. 2005. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proceedings of the National Academy of Sciences of the United States of America 102: 9553–9558. PubMed ID: 15976030
- Van Raay TJ, Vetter ML. 2004. Wnt/frizzled signaling during vertebrate retinal development. Dev. Neurosci. 26: 352–358. PubMed ID: 15855764
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.