SPTAN1 Gene Early infantile epileptic encephalopathy type 5 NGS Genetic Test
Short Name: SPTAN1 EIEE5 NGS Test
Also known as: SPTAN1 Gene Test, EIEE5 Genetic Test, Alpha-II Spectrin Gene NGS Test
SPTAN1 Gene Early infantile epileptic encephalopathy type 5 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 from the date of sample receipt in the laboratory.. 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
To detect pathogenic variants in the SPTAN1 gene associated with Early Infantile Epileptic Encephalopathy Type 5 (EIEE5).
- Test Code
- 4041
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from the date of sample receipt in the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A pre-test genetic counseling session is recommended. Patient should carry relevant clinical records and a written consent form.
Method: Phlebotomy or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample, or a single drop of blood will be spotted on an FTA card for dried blood spot analysis. For extracted DNA samples, the sample container will be opened for transfer.
Report Delivery
The sample should be stored at ambient temperature if transported within 24 hours. For longer delays, refrigerated storage is recommended.
Timeline: 3 to 4 weeks from the date of sample receipt in the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the SPTAN1 gene associated with Early Infantile Epileptic Encephalopathy Type 5 (EIEE5).
How to Prepare
- Collect blood in an EDTA vacutainer.
- If using FTA card, apply one drop of blood onto the card and allow to air dry.
- Label the sample with patient name, unique ID, and collection date.
- Transport the sample to the laboratory within 24-48 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early identification of SPTAN1 mutations through NGS testing allows timely therapeutic and supportive care for infants with EIEE5."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Insufficient sample volume
- Mislabeled sample or missing patient information
- Sample received after prolonged storage at high temperature
Understanding Your Results
No pathogenic variant detected
The SPTAN1 gene was not found to have any disease-causing variants. If clinical suspicion remains high, other genetic causes should be considered.
Pathogenic/likely pathogenic variant detected
The presence of a pathogenic variant in SPTAN1 confirms the diagnosis of Early Infantile Epileptic Encephalopathy Type 5.
Variant of uncertain significance (VUS) detected
A variation was found for which clinical significance is not yet known.
If an infant develops repeated seizures during the first months of life with associated developmental delay, hypotonia, or uncoordinated movements, consult a pediatric neurologist for evaluation and consideration of targeted genetic testing.
Limitations
- ⚠The test detects mutations only in the SPTAN1 gene and may not detect all types of mutations, such as deep intronic variants or large deletions/duplications that may require additional testing.
- ⚠A variant of uncertain significance (VUS) may require additional familial segregation analysis and variant classification.
- ⚠Negative test results do not rule out EIEE5 if clinical suspicion is high; other genetic causes for EIEE should be considered.
Risks & Considerations
- ●Slight pain or bruising at the blood collection site
- ●Infection (very rare)
- ●Dizziness or lightheadedness during blood draw
Interfering Factors
- ●Hemolysis of blood sample may affect DNA extraction
- ●Insufficient DNA quantity due to low sample volume
- ●Contamination of sample during collection or transport
- ●Patient received blood transfusion within 48 hours
Frequently Asked Questions
What is the SPTAN1 gene?
What is Early Infantile Epileptic Encephalopathy Type 5 (EIEE5)?
What are the symptoms of EIEE5?
How is EIEE5 diagnosed?
What is the cost of the SPTAN1 NGS genetic test?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get the report?
What is included in the test report?
Is genetic counseling needed before the test?
What does a positive result mean?
Are home sample collection services available?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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