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ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test

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ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test

Short Name: ST3GAL5 AIES NGS

Also known as: ST3GAL5 Gene Sequencing Test, AIES Genetic Test, GM3 Synthase Deficiency Gene Test

ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing confirmation for detected clinically significant variants on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Reports are generally delivered within 3 to 4 weeks from the date the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants, Children and Adults needing carrier/reproductive testing🏠 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 detect pathogenic or likely pathogenic variants in the ST3GAL5 gene. It provides a molecular diagnosis for Amish Infantile Epilepsy Syndrome, helps differentiate AIES from other early-infantile epilepsy syndromes, and supports medical management, prognosis, family screening, and genetic counselling.

Test Code
3882
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are generally delivered within 3 to 4 weeks from the date the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger sequencing confirmation for detected clinically significant variants
Step 1

Sample Collection

No fasting or special preparation is required. Please provide a clear clinical history, any prior EEG or imaging reports, and family pedigree information. A signed test request form from the referring clinician is helpful.

Method: Peripheral venous blood draw or FTA card spot collection

Step 2

Laboratory Analysis

A small blood sample will be collected from the infant or child by a trained phlebotomist. If using an FTA card, one drop of blood will be applied to the marked area.

Step 3

Report Delivery

There are no restrictions after blood collection. If using an FTA card, allow it to dry completely before packing. The sample should be transported to the laboratory as soon as possible.

Timeline: Reports are generally delivered within 3 to 4 weeks from the date the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. Clinical history, prior reports, and a signed referral form should be sent with the sample.
2
During the Test:A blood sample will be collected from the patient. The sample is then transported to the laboratory for DNA extraction and NGS analysis.
3
After the Test:No special precautions are needed after sample collection. The laboratory will complete the analysis and provide the clinical report and raw data files.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic or likely pathogenic variants in the ST3GAL5 gene. It provides a molecular diagnosis for Amish Infantile Epilepsy Syndrome, helps differentiate AIES from other early-infantile epilepsy syndromes, and supports medical management, prognosis, family screening, and genetic counselling.

How to Prepare

  • Use an EDTA vacutainer for whole blood collection; do not use heparin.
  • FTA cards must be labelled with the patient's name, date of birth, and sample collection time.
  • If extracted DNA is provided, ensure the sample is labelled with the DNA concentration and volume.
  • Transport whole blood at refrigerated temperature; FTA cards may be transported at ambient room temperature.

Doctor's Notes

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

"Early genetic confirmation in an infant presenting with recurrent seizures and neurodevelopmental delay is important. It helps the treating team provide accurate prognostic information, manage symptoms, and counsel parents about recurrence risk in future pregnancies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeAs per sample type: 2 mL whole blood, 1 FTA spot, or 5 µg extracted DNA
ContainerEDTA vacutainer, DNA elution tube, or FTA card
Collection MethodPeripheral venous blood draw or FTA card spot collection

Sample Stability

EDTA whole blood at 2-8°C: up to 72 hours
Extracted DNA at -20°C: stable for several months when properly stored
FTA card at ambient room temperature: stable for transport and short-term storage
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample received in a non-EDTA anticoagulant
  • Insufficient DNA concentration
  • Mislabeled or missing patient identifiers
  • FTA card not dried before packing

Understanding Your Results

Results are interpreted using ACMG/AMP guidelines for sequence variant classification. The final report should be correlated with the patient's clinical presentation by the referring physician and a clinical geneticist.
📊

Positive

📊

Negative

📊

Variant of Uncertain Significance (VUS)

📊

Carrier status

⚠️ When to Consult a Doctor:

Consult a pediatric neurologist or clinical geneticist if an infant has recurrent seizures starting in the first months of life, delayed milestones, or abnormal muscle tone. Early genetic testing can help diagnose AIES and guide treatment planning and family counselling.

Limitations

  • ⚠This targeted test analyses only the ST3GAL5 gene and does not exclude all other genetic causes of epilepsy.
  • ⚠NGS may not reliably detect large deletions, duplications, deep intronic variants, or variants in low-complexity regions.
  • ⚠A Variant of Uncertain Significance (VUS) may require additional family studies or functional analyses.
  • ⚠A negative result does not rule out non-genetic or undetected genetic causes of seizures.
  • ⚠Results should be interpreted in the context of clinical findings by a clinical geneticist.

Risks & Considerations

  • ●Mild discomfort at the venipuncture site
  • ●Small bruise or rare local infection
  • ●No direct physical risk from the genetic test itself

Interfering Factors

  • ●Clotted or haemolysed blood samples
  • ●Degraded DNA due to improper storage or transport
  • ●Incorrect anticoagulant in the blood collection tube
  • ●Contamination during sample collection or processing
  • ●Incomplete or inaccurate clinical history

Compare With Similar Tests

TestST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test
ComparisonST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test

Frequently Asked Questions

What is Amish Infantile Epilepsy Syndrome?
Amish Infantile Epilepsy Syndrome (AIES) is a rare genetic disorder caused by ST3GAL5 gene mutations. It is characterised by early-life seizures, abnormal muscle tone, severe developmental delay, and intellectual disability.
What does the ST3GAL5 gene do?
ST3GAL5 provides instructions for making an enzyme called GM3 synthase. This enzyme is needed to produce certain gangliosides in the brain. Mutations in the gene disrupt this pathway and cause neurological symptoms.
How is the ST3GAL5 NGS test performed?
DNA is extracted from the blood or FTA card sample. The ST3GAL5 gene is enriched and sequenced using next generation sequencing. Clinically significant variants are confirmed by Sanger sequencing.
What sample is required for this test?
The sample can be 2 mL blood in an EDTA vacutainer, extracted DNA, or one drop of blood placed on an FTA card.
Is fasting required for the ST3GAL5 gene test?
No, fasting is not required for this genetic test.
How long will the reports take?
Reports are typically delivered in 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of the ST3GAL5 gene NGS genetic test?
The test costs Rs 20000.0 at DNA Labs India. This includes the test, genetic counselling, and home sample collection where available.
Will I receive raw data files with this test?
Yes. DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report for this test.
Does this test diagnose only Amish Infantile Epilepsy Syndrome?
This test specifically analyses the ST3GAL5 gene. Therefore, it can confirm AIES or GM3 synthase deficiency, but it does not screen all epilepsy-related genes.
Who should be tested for ST3GAL5 gene variants?
Infants with early-onset seizures, muscle tone abnormalities, developmental delay, or a family history suggestive of AIES should be considered for testing after clinical evaluation.
What does a negative result mean?
A negative result means no pathogenic ST3GAL5 variant was detected. AIES becomes less likely, but other genetic causes of epilepsy should still be explored by the clinician.
Is genetic counselling included in this test?
Yes, pre-test genetic counselling and a family pedigree chart are included. Post-test counselling is also provided to explain the result and its reproductive implications.
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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