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Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8-23 Deletion

Summary and Pricing

Test Method

Targeted Deletion Testing via PCR
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3782 FREM1 81479 81479 $250 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3782FREM181479 81479 $250 Order Options and Pricing

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

Turnaround Time

18 days on average for standard orders or 14 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Manitoba oculotrichoanal syndrome (MOTA) is clinically characterized by eyelid colobomas, cryptophthalmos (hidden rudimentary eye), anophthalmia/microphthalmia, an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye), a bifid or broad nasal tip, and gastrointestinal anomalies (omphalocele and anal stenosis) (Li et al. 2008; Slavotinek et al. 2011).

Genetics

Manitoba oculotrichoanal syndrome (MOTA) is inherited in an autosomal recessive manner. Loss of function variants in FREM1 are reported to be causative for MOTA and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, which are milder than Fraser syndrome (Nathanson et al. 2013; Slavotinek et al. 2011). The FREM1 encoded protein localizes underneath the lamina densa of epithelial basement membrane and is involved in the structural adhesion of skin epithelium to its underlying mesenchyme by forming a macromolecular ternary complex (Petrou et al. 2008). Dysfunction of any of this protein due to pathogenic variants in this gene results in the collapse of the protein assembly.

So far, ~20 pathogenic variants in FREM1 (nonsense, missense, splicing, small and gross deletions and complex genomic rearrangements) have been reported (Human Gene Mutation Database).

The FREM1 exon 8–23 deletion (60.1-kb) (chr9:14,780,425-14,840,536) involving exons 8 through 23 specific to MOTA syndrome is seen in aboriginal patients of the Island Lake region of Northern Manitoba (Li et al. 2008; Slavotinek et al. 2011).

Clinical Sensitivity - Targeted Deletion

This specific deletion is seen in Aboriginal Manitoba oculotrichoanal syndrome patients of the Island Lake region of Northern Manitoba.

Testing Strategy

This test involves amplification of patient DNA with specific pairs of PCR primers that flank the FREM1 exon 8–23 deletion as well as primers within the deleted region to distinguish heterozygotes from homozygotes.

Indications for Test

All patients with symptoms suggestive of Manitoba Oculotrichoanal syndrome (MOTA) are candidates.

Gene

Official Gene Symbol OMIM ID
FREM1 608944
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Manitoba Oculotrichoanal Syndrome AR 248450

Citations

  • Human Gene Mutation Database (Bio-base).
  • Li et al. 2008. Manitoba Oculotrichoanal Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301721
  • Nathanson J. et al. 2013. American Journal of Medical Genetics. Part A. 161A: 473-8. PubMed ID: 23401257
  • Petrou P. et al. 2008. Connective Tissue Research. 49: 277-82. PubMed ID: 18661360
  • Slavotinek A.M. et al. 2011. Journal of Medical Genetics. 48: 375-82. PubMed ID: 21507892

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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