MFRP-Related Oculopathy via the MFRP Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesPrice Test CPT CodeGene CPT Codes Copy CPT Codes STAT Prenatal
11471 MFRP$890 8147981479,81479 Add to Order

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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average


Genetic Counselors


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)


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).

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.

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

Clinical sensitivity cannot be estimated because only a small number of patients have been reported.

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.


Official Gene Symbol OMIM ID
MFRP 606227
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Microphthalmia, Isolated 5 AR 611040


  • 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 Options

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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