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SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic Test

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SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic Test

Short Name: SLC2A2 Gene Fanconi-Bickel Syndrome Test

Also known as: Fanconi-Bickel Syndrome Genetic Test, SLC2A2 Gene Analysis

SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Fanconi-Bickel Syndrome by detecting pathogenic mutations in the SLC2A2 gene using Next-Generation Sequencing (NGS) technology, enabling early management and genetic counseling.

Test Code
1992
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and undergo a genetic counseling session to draw a family pedigree chart.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or a blood drop on an FTA card, depending on the sample type.

Step 3

Report Delivery

Sample is securely transported to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and obtain informed consent.
2
During the Test:Blood sample collection with minimal discomfort; test conducted in a certified laboratory.
3
After the Test:Results are reviewed by a geneticist and reported online; follow-up counseling recommended.

About This Test

Who Should Get This Test

To diagnose Fanconi-Bickel Syndrome by detecting pathogenic mutations in the SLC2A2 gene using Next-Generation Sequencing (NGS) technology, enabling early management and genetic counseling.

How to Prepare

  • Bring a valid ID and test requisition form
  • Follow any specific instructions from the genetic counselor
  • Ensure sample is labeled correctly

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis of Fanconi-Bickel Syndrome is vital for managing symptoms and improving patient outcomes through tailored interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample labeling

Understanding Your Results

Test results indicate the presence or absence of pathogenic mutations in the SLC2A2 gene associated with Fanconi-Bickel Syndrome.
📊

Confirms diagnosis of Fanconi-Bickel Syndrome; genetic counseling and management advised.

📊

Unlikely Fanconi-Bickel Syndrome; consider other causes of symptoms and further clinical evaluation.

⚠️ When to Consult a Doctor:

If symptoms such as growth retardation, hypoglycemia, or renal dysfunction are present, or if there is a family history of Fanconi-Bickel Syndrome or metabolic disorders.

Limitations

  • ⚠May not detect all possible mutations in the SLC2A2 gene
  • ⚠Results require correlation with clinical findings
  • ⚠Genetic counseling is recommended pre- and post-test

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic diagnosis

Interfering Factors

  • ●Poor sample quality
  • ●DNA contamination
  • ●Sample mishandling

Frequently Asked Questions

What is Fanconi-Bickel Syndrome?
Fanconi-Bickel Syndrome is a rare genetic disorder affecting carbohydrate metabolism, caused by mutations in the SLC2A2 gene, leading to symptoms like growth retardation and hypoglycemia.
What causes Fanconi-Bickel Syndrome?
It is caused by mutations in the SLC2A2 gene, which encodes the GLUT2 protein responsible for glucose transport in liver, kidney, and pancreatic cells.
What are the symptoms of Fanconi-Bickel Syndrome?
Symptoms include growth retardation, hypoglycemia, frequent urination and thirst, enlarged liver and spleen, proteinuria, Fanconi syndrome, bowing of legs, and dental caries.
How is Fanconi-Bickel Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, specifically Next-Generation Sequencing (NGS) of the SLC2A2 gene to detect pathogenic mutations.
What is the SLC2A2 gene?
The SLC2A2 gene provides instructions for making the GLUT2 protein, which is crucial for glucose transportation across cell membranes in certain tissues.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a high-throughput method that sequences multiple genes simultaneously, making it efficient and cost-effective for diagnosing rare genetic disorders.
What is the cost of the SLC2A2 Gene test in India?
The cost is approximately INR 20,000, which may vary slightly by laboratory, but DNA Labs India offers it at a discounted price with home collection.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection for online bookings across numerous cities in India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What sample types are accepted for this test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss the implications of testing.
How accurate is the NGS genetic test for Fanconi-Bickel Syndrome?
NGS is highly accurate for detecting mutations in the SLC2A2 gene, but results should be interpreted in conjunction with clinical findings and genetic counseling.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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