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STXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic Test

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STXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic Test

Short Name: STXBP1 NGS Test

Also known as: STXBP1 Gene Sequencing, STXBP1 Mutation Analysis, EIEE4 Genetic Test, Syntaxin-Binding Protein 1 Gene Test

STXBP1 Gene Early infantile epileptic encephalopathy type 4 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 delivered within 3-4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS (Next-Generation Sequencing)All Ages (typically infants)🏠 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 mutations in the STXBP1 gene that cause early infantile epileptic encephalopathy type 4 (EIEE4), enabling accurate diagnosis, prognosis, and genetic counseling.

Test Code
4036
CPT Code
81435
ICD Code
G40.89
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3-4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Please provide a detailed clinical history and any prior investigations. A genetic counseling session will be arranged to draw a three-generation pedigree and discuss the implications of testing. No fasting or dietary restriction is needed. Ensure the patient is well-hydrated.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

For blood collection, 2-3 ml of whole blood is drawn in an EDTA vacutainer by a trained phlebotomist. Alternatively, a few drops of blood can be spotted on an FTA card if preferred. Saliva samples can also be collected using a sterile Oragene container.

Step 3

Report Delivery

No special precautions are required after sample collection. You may resume normal activities immediately. Results are typically available in 3-4 weeks.

Timeline: Reports are delivered within 3-4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No special preparation required. A genetic counseling session is recommended to discuss the purpose, risks, and benefits of testing.
2
During the Test:A blood or saliva sample is collected in about 10 minutes. For infants, a heel-prick or fingertip blood spot on FTA card may be used.
3
After the Test:You can return to normal activities. The laboratory will process the sample and share results in 3-4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the STXBP1 gene that cause early infantile epileptic encephalopathy type 4 (EIEE4), enabling accurate diagnosis, prognosis, and genetic counseling.

How to Prepare

  • Do not keep the sample in direct sunlight.
  • Label the sample tube/card with the patient's full name, date of birth, and collection date.
  • Transport the sample to the laboratory within 48 hours if possible.

Doctor's Notes

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

"Early-onset seizures in infancy with developmental delay warrant prompt genetic testing. Genetic counseling before and after testing helps families understand the implications and plan ongoing management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood or as required
ContainerEDTA vacutainer / FTA card / Oragene saliva kit
Collection MethodVenipuncture or Fingerstick

Sample Stability

EDTA blood: 24-48 hours at room temperature (up to 72 hours at 2-8°C).
FTA card: stable for months at room temperature in a cool, dry place.
Extracted DNA: stable for 6 months at -20°C.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood samples.
  • Mislabeled or unlabeled samples.
  • Sample received more than 72 hours after collection (for blood) without proper cold storage.
  • Sample with suspected contamination or leakage.

Understanding Your Results

Results are interpreted by a clinical geneticist based on the ACMG/AMP guidelines. For each detected variant, the report will classify it as pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, or benign.
Positive - A pathogenic/likely pathogenic mutation is identified in the STXBP1 gene. This confirms the clinical diagnosis of EIEE type 4.
Negative - No clinically significant variant is detected. Further genetic evaluation may be recommended.
Variant of Unknown Significance (VUS) - A variant was found but its clinical significance is currently unclear. Familial testing is recommended to establish its segregation.
⚠️ When to Consult a Doctor:

Consult a pediatric neurologist or clinical geneticist if your child has (or is suspected of having) early infantile epileptic encephalopathy, especially if seizures are difficult to control and are accompanied by developmental delay or regression.

Limitations

  • ⚠This NGS test is designed to detect single-nucleotide variants and small insertions/deletions in the STXBP1 coding and splice-site regions.
  • ⚠Large structural rearrangements, whole-gene deletions, deep intronic variants, and trinucleotide repeat expansions may not be detected.
  • ⚠A negative result does not rule out genetic causes of EIEE outside the STXBP1 gene.
  • ⚠Variants of uncertain significance (VUS) may require further family segregation studies or functional analysis.

Risks & Considerations

  • ●Very low risk of bruising or discomfort at the collection site
  • ●No significant medical risks associated with blood/saliva collection
  • ●Potential psychological implications of results; genetic counseling is advised

Interfering Factors

  • ●Compromised DNA quality from improper storage or transport
  • ●Maternal cell contamination in extraction
  • ●Low sequence coverage in high-GC regions
  • ●Complex structural or copy number variants
  • ●Ongoing hematopoietic cell transplantation (if blood sample)

Compare With Similar Tests

TestSTXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic Test
ComparisonSTXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic Test

Frequently Asked Questions

What is STXBP1-related early infantile epileptic encephalopathy?
STXBP1-related EIEE type 4 is a rare genetic disorder caused by mutations in the STXBP1 gene, which disrupts neurotransmitter release and leads to severe epilepsy beginning in infancy, accompanied by developmental delay and intellectual disability.
How is the STXBP1 NGS test performed?
Next-generation sequencing (NGS) is used to read the entire coding region of the STXBP1 gene from a small blood, saliva, or FTA card sample. The DNA is amplified and sequenced, then compared to a reference genome to identify pathogenic variants.
Who should take this genetic test?
Infants or children with unexplained early-onset seizures, developmental delay/regression, features of EIEE, or a family history of STXBP1 mutations may be candidates. A clinical geneticist or neurologist will decide based on the presentation.
Is fasting required before the test?
No, fasting is not required for the STXBP1 NGS genetic test. The patient can eat and drink normally before sample collection.
What is the cost of the STXBP1 NGS genetic test in India?
The cost is INR 20,000 (Rs 20,000) at DNA Labs India. This includes home sample collection across major cities, genetic counseling, and a detailed clinical report along with raw data files.
What are the advantages of NGS over Sanger sequencing for STXBP1?
NGS provides comprehensive coverage of the entire gene in a single test, with high sensitivity and accuracy. It is faster, more cost-effective, and can detect mutations that Sanger might miss, especially when testing multiple genes is needed.
What type of sample is needed for the test?
The test accepts whole blood (EDTA tube), extracted DNA, or a few drops of blood on an FTA card. Saliva samples are also acceptable. Blood is the most common sample type.
How are results reported?
The report includes variant identification, interpretation according to ACMG guidelines, and a clinical conclusion (positive/negative/VUS). It also includes the raw sequencing data (FASTQ, VCF) for transparency and additional analysis.
Does a negative result rule out genetic epilepsy?
No, a negative STXBP1 test does not exclude other genetic causes of epilepsy. There are many other genes associated with EIEE; your doctor may recommend a broader epilepsy panel or further investigations.
Can this test be done during pregnancy?
Prenatal genetic testing for STXBP1-related EIEE can be performed via chorionic villus sampling or amniocentesis when there is a known familial mutation. However, this requires careful genetic counseling and is not a routine test during pregnancy.
Are raw data files provided with the report?
Yes, DNA Labs India provides raw data (FASTQ, VCF) along with the clinical report, allowing optional independent analysis or future re-interpretation as medical knowledge advances.
What is the turnaround time for STXBP1 NGS testing?
The report is usually available within 3 to 4 weeks after the sample is received at the laboratory.
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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