Fraser Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10165 FRAS1 81479,81479 Order Options and Pricing
FREM1 81479,81479
FREM2 81479,81479
GRIP1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10165Genes x (4)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.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Fraser syndrome (FS) is rare and is clinically characterized by classical features of bilateral congenital cryptophthalmos (hidden rudimentary eye), cutaneous syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, craniofacial dysmorphism oral clefting, musculoskeletal anomalies and mental retardation (Kabra et al. 2000; Slavotinek et al. 2006).

Genetics

Fraser syndrome is inherited in an autosomal recessive manner. Pathogenic variants in FRAS1, FREM1, FREM2 and GRIP1 are reported to be causative for FS (Ozemri Sag et al. 2015). The encoded proteins Fras1, Frem1 and Frem2 all localize underneath the lamina densa of epithelial basement membranes. Frem1 and Frem2 belong to the protein complex of the extracellular matrix. All these proteins, including GRIP1 encoded scaffolding protein, are 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 these proteins due to pathogenic variants in these genes results in the collapse of the protein assembly, which explains the characteristic features of FS such as cryptophthalmos and cutaneous syndactyly.

So far, over 30 pathogenic variants in FRAS1 (nonsense, missense, splicing, small and gross deletions and insertions), ~20 pathogenic variants in FREM1 (nonsense, missense, splicing, small and gross deletions and complex genomic rearrangements), ~5 pathogenic variants in FREM2 (missense, splicing and small deletions) and ~10 pathogenic variants in GRIP1 (missense, nonsense, splicing, small and gross deletions) have been reported that are causative for Fraser syndrome (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 analysis of 48 FS patients (48 consanguineous and 15 nonconsanguineous families) identified pathogenic variants in FRAS1 and FREM2 in 43% of the cases (van Haelst et al. 2008). Due to genotypic heterogeneity and limited number of cases, clinical sensitivity of the FREM1 and GRIP1 genes is currently unknown.

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 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).

Indications for Test

All patients with symptoms suggestive of Fraser syndrome are candidates.

Genes

Official Gene Symbol OMIM ID
FRAS1 607830
FREM1 608944
FREM2 608945
GRIP1 604597
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Fraser Syndrome AR 219000
Manitoba Oculotrichoanal Syndrome AR 248450

Related Test

Name
PGxome®

Citations

  • Human Gene Mutation Database.
  • Kabra M. et al. 2000. Indian Journal of Pediatrics. 67: 775-8 PubMed ID: 11105430
  • Ozemri Sag S. et al. 2015. Genetic Counseling (geneva, Switzerland). 26: 21-7. PubMed ID: 26043503
  • Petrou P. et al. 2008. Connective Tissue Research. 49: 277-82. PubMed ID: 18661360
  • Slavotinek A. et al. 2006. American Journal of Medical Genetics. Part A. 140: 1909-14. PubMed ID: 16894541
  • van Haelst MM. et al. 2008. American Journal of Medical Genetics. Part A. 146A: 2252-7.  PubMed ID: 18671281

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

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ORDER OPTIONS

View Ordering Instructions

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.

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