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Glomerulopathy with Fibronectin Deposits via the FN1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11341 FN1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11341FN181479 81479,81479 $890 Order Options and Pricing

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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 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.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Glomerulopathy with fibronectin deposits (GFND) is characterized by proteinuria, microscopic hematuria, and hypertension with age-related penetrance (Castelletti et al. 2008; Ohtsubo et al 2016). Patients progress to end-stage renal failure in the second to fifth decade of life. Pathologic examination revealed enlarged glomeruli with deposits in the mesangium and subendothelial space.

Genetics

Glomerulopathy with fibronectin deposits is an autosomal dominant disorder with age-related penetrance and so far the FN1 gene is the only causative gene found for the disease (Castelletti et al. 2008; Ohtsubo et al 2016). The FN1 gene (46 coding exons) encodes fibronectin, a glycoprotein involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. To date, documented genetic defects of FN1 include missense and one small in-frame deletion (Human Gene Mutation Database). Large deletions/duplications have not been reported to date.

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 15 unrelated families with glomerulopathy with fibronectin deposits, sequencing of the FN1 gene identified three different heterozygous missense variants that co-segregated with the disease in six families (40%) (Castelletti et al. 2008).

In another study of 12 unrelated families with glomerulopathy with fibronectin deposits, sequencing for the FN1 gene identified six different heterozygous variants in all of 12 families (100%) (Ohtsubo et al. 2016).

Testing Strategy

This test provides full coverage of all coding exons of the FN1 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

Candidates for this test are patients with glomerulopathy with fibronectin deposits. Testing is also indicated for family members of patients who have known pathogenic variants in the FN1 gene.

Gene

Official Gene Symbol OMIM ID
FN1 135600
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Glomerulopathy With Fibronectin Deposits 2 AD 601894

Citations

  • Castelletti F. et al. 2008. Proceedings of the National Academy of Sciences of the United States of America. 105: 2538-43. PubMed ID: 18268355
  • Human Gene Mutation Database (Bio-base).
  • Ohtsubo H. et al. 2016. Pediatric Nephrology. 31: 1459-67. PubMed ID: 27056061

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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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