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SLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test

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SLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test

Short Name: SLC2A1 GLUT1 NGS Test

Also known as: SLC2A1 Gene Sequencing, GLUT1 Deficiency Genetic Test, SLC2A1 NGS Analysis, GLUT1DS Type 1 Genetic Test

SLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation on Blood (EDTA) / Extracted DNA / FTA Card Blood Spot samples. Results in Reports are released within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify disease-causing variants in the SLC2A1 gene. Confirmatory genetic diagnosis enables early dietary intervention and personalized management in patients presenting with suspected GLUT1 deficiency syndrome type 1.

Test Code
4103
Price
₹20,000
Sample Type
Blood (EDTA) / Extracted DNA / FTA Card Blood Spot
Result Time
Reports are released within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation
Step 1

Sample Collection

No fasting or special preparation is required. A genetic counselling session is recommended before testing to confirm the test is appropriate and to document family history.

Method: Peripheral venous blood collection / Dried blood spot on FTA card

Step 2

Laboratory Analysis

A small blood sample is collected by a trained phlebotomist under aseptic conditions. If using an FTA card, a single drop of blood is applied to the marked circles.

Step 3

Report Delivery

You can resume normal activities immediately. If you feel dizzy, sit or lie down for a few minutes before leaving the collection centre.

Timeline: Reports are released within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended before ordering this test to confirm that the test is appropriate and to obtain informed consent.
2
During the Test:A small blood sample will be collected by venipuncture. No anesthesia is needed.
3
After the Test:There is no special aftercare. You can resume normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the SLC2A1 gene. Confirmatory genetic diagnosis enables early dietary intervention and personalized management in patients presenting with suspected GLUT1 deficiency syndrome type 1.

How to Prepare

  • Use a lavender-top EDTA tube for blood collection.
  • For extracted DNA, send 1-2 µg with concentration ≥20 ng/µl.
  • For FTA card, apply one drop of blood on each marked circle and air-dry before packaging.
  • Label the sample clearly with patient name, date of birth, and collection date.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"GLUT1 deficiency should be considered in children with early-onset epilepsy, developmental delay, and movement disorders. Timely genetic confirmation can guide ketogenic diet therapy and improve neurodevelopmental outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood (EDTA) / Extracted DNA / FTA Card Blood Spot
Sample Volume3 ml EDTA blood or 1-2 µg extracted DNA or 1 blood spot on FTA card
ContainerLavender-top EDTA tube / sterile 1.5 ml tube / FTA card
Collection MethodPeripheral venous blood collection / Dried blood spot on FTA card

Sample Stability

EDTA blood: 72 hours at 2-8°C.
Extracted DNA: 7 days at 4°C or 1 month at -20°C.
FTA card: 6 months at ambient temperature when stored in a dry, sealed bag.
Sample Rejection Criteria:
  • Clotted, frozen, or heavily hemolyzed whole blood sample.
  • Insufficient sample quantity.
  • Improperly labelled sample or sample without a request form.
  • Sample received in a non-sterile or leaking container.
  • DNA sample showing degradation or low purity.

Understanding Your Results

This test detects pathogenic variants in the SLC2A1 gene. Results should be interpreted by a clinical geneticist in the context of clinical symptoms, CSF glucose, and family history.
📊

No pathogenic variant detected

No evidence of a SLC2A1 pathogenic variant. GLUT1 deficiency becomes less likely, but clinical and CSF findings should still be considered.

📊

Pathogenic or likely pathogenic variant detected

Genetic confirmation of GLUT1 deficiency syndrome type 1.

📊

Variant of uncertain significance (VUS)

The clinical significance of the variant is unknown. Family segregation testing may help clarify its role.

⚠️ When to Consult a Doctor:

If the test detects a pathogenic variant or a variant of uncertain significance, or if your child has unexplained seizures, developmental delay, or movement disorders, consult a clinical geneticist or neurologist for counselling and management.

Limitations

  • ⚠NGS may not reliably detect large multi-exon deletions/duplications, deep intronic variants, structural rearrangements, or variants in repetitive regions.
  • ⚠This test does not evaluate other genetic causes of epilepsy or developmental delay.
  • ⚠A variant of uncertain significance (VUS) is not diagnostic and may require further family segregation testing.
  • ⚠A negative result does not completely exclude GLUT1 deficiency; clinical and CSF findings remain important.

Risks & Considerations

  • ●Minimal bleeding at the puncture site
  • ●Slight bruising or soreness
  • ●Rare risk of local infection
  • ●Dizziness or lightheadedness during blood collection

Interfering Factors

  • ●Recent allogeneic bone marrow transplant can cause mixed DNA results.
  • ●Blood transfusion from a different individual may complicate interpretation in rare cases.
  • ●Extracted DNA with low concentration, degradation, or impurities may cause NGS failure.
  • ●Certain complex or structural variants may not be detected by standard NGS.

Compare With Similar Tests

TestSLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test
ComparisonSLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is the SLC2A1 gene GLUT1 deficiency syndrome type 1 NGS genetic test?
It is a next-generation sequencing test that analyses the SLC2A1 gene to detect pathogenic variants causing GLUT1 deficiency syndrome type 1.
How much does the SLC2A1 GLUT1 deficiency NGS genetic test cost at DNA Labs India?
The test costs INR 20,000, and free home sample collection is included for online bookings across India.
What sample is required for this genetic test?
The sample can be 3 ml EDTA venous blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before giving a sample for this test?
No, fasting is not required. You can eat and drink normally unless your doctor advises otherwise.
Who should be tested for GLUT1 deficiency syndrome type 1?
Testing is recommended for individuals with unexplained early-onset seizures, developmental delay, movement disorders, ataxia, microcephaly, or low CSF glucose with normal blood glucose.
How long will it take to get my test report?
Reports are usually ready in 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection in more than 150 cities across India for this test.
Will I receive raw data along with the clinical report?
Yes, DNA Labs India shares FASTQ, VCF, and raw data files along with the conclusive clinical report on request.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant was found in SLC2A1, which confirms the diagnosis of GLUT1 deficiency syndrome type 1.
What treatment is available for GLUT1 deficiency syndrome type 1?
There is no cure, but the ketogenic diet can provide an alternative brain fuel. Antiseizure medications and supportive therapies help control symptoms.
Is GLUT1 deficiency syndrome inherited?
Most cases are caused by new pathogenic variants in the SLC2A1 gene. Inheritance is autosomal dominant, so a parent may be affected or may not show symptoms.
Is a genetic counselling session included with this test?
Yes, pre-test genetic counselling is recommended, and DNA Labs India includes counselling to document family history and explain the limitations and benefits of testing.
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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