SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic Test
Short Name: SLC2A1 Gene Epilepsy NGS
Also known as: GLUT1 Deficiency Syndrome Genetic Test, SLC2A1 Gene Mutation Analysis, Epilepsy Idiopathic Generalized Type 12 Genetic Test
SLC2A1 Gene Epilepsy, idiopathic generalized type 12 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect mutations in the SLC2A1 gene that cause idiopathic generalized epilepsy type 12 (GLUT1 deficiency syndrome). It is used to confirm a clinical diagnosis, determine the genetic basis of epilepsy, guide treatment choices (such as ketogenic diet), and provide information for genetic counseling and family planning.
- Test Code
- 4079
- 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)
Sample Collection
No special preparation or fasting is required. Inform your healthcare provider about any medications you are taking. Genetic counseling is recommended before the test.
Method: Blood draw by phlebotomist or FTA card sample
Laboratory Analysis
A small blood sample will be drawn by a trained phlebotomist. If using FTA card, a single drop of blood from a finger prick will be applied to the card.
Report Delivery
There are no restrictions after sample collection. You may resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the SLC2A1 gene that cause idiopathic generalized epilepsy type 12 (GLUT1 deficiency syndrome). It is used to confirm a clinical diagnosis, determine the genetic basis of epilepsy, guide treatment choices (such as ketogenic diet), and provide information for genetic counseling and family planning.
How to Prepare
- Ensure correct patient identification on the sample.
- Use sterile EDTA vacutainer for blood collection.
- If FTA card is used, allow the blood spot to dry completely before packaging.
- Store blood sample at room temperature and transport to the laboratory within 24 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling is essential before and after SLC2A1 gene testing to help patients and families understand the implications of results, including treatment options like ketogenic diet and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolyzed sample
- Insufficient sample volume
- Incorrect sample labeling
- Sample received in inappropriate container
Understanding Your Results
Pathogenic variant detected
The patient has a confirmed genetic diagnosis of GLUT1 deficiency syndrome (SLC2A1-related epilepsy). Treatment such as ketogenic diet should be discussed.
Variant of uncertain significance (VUS) detected
The significance of the variant is unknown. Additional segregation analysis and functional studies may be needed.
No pathogenic variant detected
No disease-causing mutation was identified in the SLC2A1 gene. This does not rule out GLUT1 deficiency syndrome if clinical suspicion is high, as mutations in other genes or non-genetic causes may exist.
If you are experiencing symptoms such as recurrent seizures that do not respond to standard medications, unexplained developmental delay, or movement abnormalities, consult a neurologist. If you have a family history of SLC2A1-related epilepsy, genetic counseling and testing are recommended.
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the blood draw site
- ●Rare risk of infection at the puncture site
- ●No risks associated with FTA card collection
Interfering Factors
- ●Contamination of sample with exogenous DNA
- ●Presence of PCR inhibitors
- ●Low DNA quality or quantity
- ●Genetic variants in primer binding sites may cause allele drop-out
Frequently Asked Questions
What is the SLC2A1 gene?
What is idiopathic generalized epilepsy type 12?
What does this NGS genetic test detect?
Who should take this test?
What is the cost of the test?
How is the sample collected?
Is fasting required for this test?
How long will the results take?
What is GLUT1 deficiency syndrome?
How will this test help my treatment?
Are there any risks from the test?
Can this test be done for prenatal diagnosis?
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