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SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic Test

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SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic Test

Short Name: SLC2A1 NGS Genetic Test

Also known as: PED with epilepsy and/or hemolytic anemia, SLC2A1-related paroxysmal dyskinesia, GLUT1 deficiency-related paroxysmal dyskinesia

SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia 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 Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

To detect pathogenic or likely pathogenic variants in the SLC2A1 gene using next generation sequencing, confirm the clinical diagnosis of SLC2A1-related paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia, and enable genetic counselling for at-risk family members.

Test Code
4450
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. A genetic counselling session may be arranged before the test to review family history, explain the genetic basis, and obtain informed consent.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

For a whole blood sample, a phlebotomist will collect blood from a vein using a sterile needle. If an FTA card is used, a few drops of blood will be applied on the card and allowed to air dry before sealing.

Step 3

Report Delivery

After sample collection, the patient can return to normal daily activities. The sample will be transported to the laboratory for NGS analysis.

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

Patient Instructions

1
Before the Test:No special preparation is required. Pre-test genetic counselling and informed consent are recommended.
2
During the Test:Sample collection takes only a few minutes. Whole blood or FTA card blood spot will be collected.
3
After the Test:There are no activity restrictions after sample collection. The laboratory will share the report once it is ready.

About This Test

Who Should Get This Test

To detect pathogenic or likely pathogenic variants in the SLC2A1 gene using next generation sequencing, confirm the clinical diagnosis of SLC2A1-related paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia, and enable genetic counselling for at-risk family members.

How to Prepare

  • Carry a valid doctor's prescription and previous medical records
  • Accurately fill the test requisition form with clinical history and family history
  • Ensure the sample is collected in an EDTA vacutainer or on an FTA card as instructed
  • Label the sample tube or FTA card with patient name, date of birth, collection date and unique ID
  • Inform the laboratory if the patient has had a recent blood transfusion

Doctor's Notes

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

"When a familial SLC2A1 variant is identified, genetic testing of at-risk relatives can clarify recurrence risks and support reproductive planning. I recommend coordinating this with a clinical geneticist for comprehensive counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for testing
ContainerEDTA vacutainer / DNA-free sterile tube / FTA card
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

Whole blood (EDTA): stable for up to 24 hours at room temperature and up to 7 days at 2-8°C
Extracted DNA: stable for several weeks when stored at -20°C
FTA card blood spot: stable at room temperature when kept dry and away from direct sunlight
Sample Rejection Criteria:
  • Unlabelled or mislabelled sample
  • Insufficient sample quantity or empty tube
  • Haemolysed or clotted blood sample
  • FTA card wet, contaminated, or not air-dried properly
  • Sample received in unsuitable transport media

Understanding Your Results

Results of this NGS test must be interpreted by a clinical geneticist or designated physician in the context of clinical history, family history and neurological/haematological findings.
📊

Pathogenic or likely pathogenic variant detected in SLC2A1

Provides molecular confirmation of the clinical diagnosis in most cases and supports referral for targeted management and family segregation testing.

Action: Discuss with clinical genetics and neurology; arrange genetic counselling; consider testing at-risk relatives.

📊

Variant of uncertain significance (VUS) detected

Inconclusive; the variant has not yet been classified as pathogenic or benign.

Action: Further family studies, segregation analysis and/or functional studies may be recommended.

📊

No pathogenic variant detected in SLC2A1

Reduces but does not exclude SLC2A1-related disorder; other genetic or non-genetic causes should be considered.

Action: Consider a multi-gene panel or clinical re-evaluation; genetic counselling is recommended.

⚠️ When to Consult a Doctor:

If the result shows a pathogenic or likely pathogenic SLC2A1 variant, consult a clinical geneticist or neurologist for further management and family counselling. If a VUS is reported, a genetic counsellor can help determine next steps. Persistent clinical symptoms despite a negative result also warrant re-evaluation.

Limitations

  • ⚠NGS may not detect all types of mutations, including large structural variants, deep intronic variants or epigenetic changes
  • ⚠A variant of uncertain significance (VUS) may be reported and is not a definitive positive or negative result
  • ⚠A negative result does not exclude a diagnosis of SLC2A1-related disorder
  • ⚠Results must be correlated with clinical findings and interpreted by a qualified clinician

Risks & Considerations

  • ●Minor discomfort or bruising at the venipuncture site
  • ●Mild bleeding or infection is rare
  • ●No significant radiation or chemical risk from genetic sample collection

Interfering Factors

  • ●Recent allogeneic blood transfusion can cause mixed DNA results and affect variant detection
  • ●Inadequate DNA quantity or quality may fail to meet sequencing quality metrics
  • ●Sample contamination can cause false variant calls
  • ●Clinical symptoms may be due to variants in other genes not covered by this test

Compare With Similar Tests

TestSLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic Test
ComparisonSLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic Test

Frequently Asked Questions

What is the SLC2A1 gene?
The SLC2A1 gene provides instructions for making GLUT1, a protein that transports glucose across cell membranes. It is critical for normal brain function and red blood cell glucose uptake. Pathogenic variants in SLC2A1 can cause GLUT1 deficiency syndrome and phenotypes such as paroxysmal exercise-induced dyskinesia, epilepsy and hemolytic anemia.
What is paroxysmal exercise-induced dyskinesia (PED)?
PED is a movement disorder in which sudden or sustained physical activity triggers brief episodes of involuntary movements such as chorea, dystonia or athetosis. The episodes usually affect the limbs and may last from minutes to hours. In SLC2A1-related PED, epilepsy and/or hemolytic anemia may coexist.
Why is this NGS genetic test recommended?
This test looks for mutations in the SLC2A1 gene using next generation sequencing. It is recommended when a doctor suspects SLC2A1-related PED, GLUT1 deficiency, unexplained epilepsy or unexplained hemolytic anemia. Confirmation of a pathogenic variant can help guide treatments such as the ketogenic diet and antiseizure therapy.
What type of sample is needed?
The sample can be whole blood collected in an EDTA tube, extracted DNA, or one drop of blood placed on an FTA card. The right sample type depends on the patient's age and logistics; the laboratory can guide you.
Is fasting required for this test?
No. Fasting is not required for SLC2A1 gene NGS testing. You can eat and drink normally before sample collection.
What does a pathogenic variant result mean?
A pathogenic variant is a genetic change known to cause disease. If a pathogenic variant is found in SLC2A1, it confirms that the disorder is caused by a defect in this gene. This is important for clinical management, prognosis and counselling of family members.
What does a variant of uncertain significance (VUS) mean?
A VUS is a genetic change that has not yet been proven to be harmful or benign. It is not a definitive diagnosis. Additional testing of family members may help laboratories classify the variant. Your doctor or genetic counsellor will explain the next steps.
Can NGS detect all SLC2A1 mutations?
No genetic test can detect 100% of all mutations. NGS can identify single-base substitutions and small insertions or deletions in covered regions, but may miss large structural rearrangements, deep intronic variants or epigenetic abnormalities. A negative result should be interpreted carefully.
How long will the report take?
The clinical report is usually ready in 3 to 4 weeks after receipt of the sample at the laboratory. You will be notified when the report is available.
Will this test help my family members?
Yes. Once a pathogenic SLC2A1 variant is identified in a patient, other at-risk family members can undergo targeted testing to know their carrier or affected status. This supports reproductive and clinical decisions. Genetic counselling is strongly advised.
Does DNA Labs India share raw data with the report?
Yes. DNA Labs India is transparent about raw data sharing. Patients and treating doctors can receive the raw FASTQ and VCF files along with the clinical report to support independent consultation and data review.
How much does the test cost?
The SLC2A1 NGS genetic test is priced at Rs 20,000 in India. Free home sample collection is available for online bookings in most major cities. However, the final payable amount may vary if additional confirmatory testing or counselling is requested.
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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