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Fanconi-Bickel Syndrome via the SLC2A2 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
9949 SLC2A2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9949SLC2A281479 81479(x2) $890 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 backbone).

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

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

For Sanger Sequencing click here.

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

  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Fanconi-Bickel syndrome (OMIM 227810), also sometimes known as glycogen storage disease, type XI, is a rare disorder of monosaccharide transport. The disease is usually diagnosed in infancy and is characterized by hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, short stature, proximal renal tubular dysfunction, and often rickets.

Genetics

Fanconi-Bickel syndrome is inherited in an autosomal recessive manner. All causative genetic defects reported to date have been within the SLC2A2 (GLUT2) gene on chromosome 3q26. About 40 likely causative variants in this gene have been reported to date (Santer et al. 2002 and Human Gene Mutation Database (http://www.hgmd.org/). The variants are located throughout the length of the gene. No variants are predominant. Although some missense variants at conserved amino acids have been reported, approximately 75% of the causative variants have been nonsense, frameshift, or splicing defects.

Clinical Sensitivity - Sequencing with CNV PGxome

Santer et al. (2002) reported finding two likely causative variants in 41 out of 49 Fanconi-Bickel patients (84%). Occasionally, only one of the two variants in a patient may be detected.

Testing Strategy

This test provides full coverage of all coding exons of the SLC2A2 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

Patients with symptoms consistent with Fanconi-Bickel syndrome are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLC2A2.

Gene

Official Gene Symbol OMIM ID
SLC2A2 138160
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Fanconi-Bickel Syndrome 227810

Citations

  • Santer, R., et.al. (2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome." Hum Genet 110(1): 21-9. PubMed ID: 11810292
  • Santer, R., et.al. (2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome." Hum Genet 110(1): 21-9. PubMed ID: 11810292
  • Santer, R., et.al. (2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome." Hum Genet 110(1): 21-9. PubMed ID: 11810292

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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