FGF12 Gene Early infantile epileptic encephalopathy type 47 NGS Genetic Test
Short Name: FGF12 EIEE47 NGS Test
Also known as: EIEE47 Genetic Test, FGF12 Gene Mutation Test, FGF12 Sequencing Test
FGF12 Gene Early infantile epileptic encephalopathy type 47 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 Results typically arrive in 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect pathogenic mutations in the FGF12 gene that cause Early Infantile Epileptic Encephalopathy Type 47 (EIEE47). Confirming a genetic basis for early-onset seizures helps guide clinical management, prognostication, and family genetic counseling.
- Test Code
- 4038
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results typically arrive in 3 to 4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A clinical history of the patient and a genetic counselling session to draw a pedigree chart of affected family members is required. No special preparation such as fasting is needed.
Method: Peripheral blood collection, FTA card blood spot, or extracted DNA submission
Laboratory Analysis
A blood sample will be collected by venipuncture. Alternatively, a few drops of blood may be placed on an FTA card, or an extracted DNA sample may be provided.
Report Delivery
No restrictions. The turnaround time is typically 3 to 4 weeks. Reports will be shared and a genetic counselor will explain the results.
Timeline: Results typically arrive in 3 to 4 weeks from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the FGF12 gene that cause Early Infantile Epileptic Encephalopathy Type 47 (EIEE47). Confirming a genetic basis for early-onset seizures helps guide clinical management, prognostication, and family genetic counseling.
How to Prepare
- Provide clinical history and prior investigation records.
- Genetic counseling session to construct a three-generation pedigree.
- No fasting is required.
- Inform about any ongoing medications or recent transfusions.
- Samples can be collected at home or at a designated collection center.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for EIEE47 should be considered in infants presenting with early-onset epilepsy and developmental delay. A confirmed molecular diagnosis enables family counseling and informs recurrence risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Improperly labelled sample
- Insufficient DNA quantity for NGS
- Incomplete clinical history or pedigree information
Understanding Your Results
If your infant has early-onset seizures, developmental delay, or suspected EIEE47, consult a pediatric neurologist or clinical geneticist immediately. Discuss genetic testing and counseling for early intervention.
Limitations
- ⚠This NGS-based single-gene test may not detect large exonic deletions/duplications, deep intronic variants, or structural rearrangements.
- ⚠A negative result does not entirely rule out EIEE47 if clinical suspicion is high; additional testing such as a gene panel or whole exome sequencing may be considered.
Risks & Considerations
- ●Pain or bruising at the blood draw site
- ●Vasovagal reaction (rare)
- ●Infection (very rare)
Interfering Factors
- ●No specific interfering substances are documented for this genetic test. Results should be interpreted in the context of clinical symptoms and family history.
Frequently Asked Questions
What is the FGF12 gene?
What is Early Infantile Epileptic Encephalopathy Type 47 (EIEE47)?
How is EIEE47 inherited?
What are the symptoms of EIEE47?
How is EIEE47 diagnosed?
What is the cost of the FGF12 gene NGS test at DNA Labs India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get the reports?
What does a positive test result mean?
Does the test include genetic counseling?
Is home sample collection 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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