Benign Infantile Epilepsy Gene Panel Test: Booking, Price, and Results
About Benign Infantile Epilepsy Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Benign Familial Infantile Epilepsy Panel, BFIE Gene Panel, Self-Limited Infantile Epilepsy (SeLIE) Genetic Test, Infantile Seizure Gene Panel |
| Sample Type | Chorionic villus (CVS), amniotic fluid, or peripheral blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | Infants and children with suspected benign infantile epilepsy; parents or family members with a history of infantile seizures; all genders |
| Price | Starting at ₹21,600 |
What is a Benign Infantile Epilepsy Gene Panel Test?
The Benign Infantile Epilepsy Gene Panel Test is a specialised genetic test that analyses multiple genes linked to seizures in infants and young children. It is prescribed when a child shows signs of infantile epilepsy, particularly where a hereditary cause is suspected. Also referred to as the BFIE Gene Panel or Self-Limited Infantile Epilepsy (SeLIE) Genetic Test, it is performed using next-generation sequencing (NGS), an advanced DNA analysis method. Samples accepted include peripheral blood, chorionic villus (CVS), or amniotic fluid.
What Does a Benign Infantile Epilepsy Gene Panel Test Measure?
The Benign Infantile Epilepsy Gene Panel Test examines several genes known to cause or contribute to infantile seizure disorders. Each gene plays a specific role in how nerve cells function.
The following genes are analysed as part of this panel:
| Gene | Role |
|---|---|
| PRRT2 | Active in brain neurons; regulates neurotransmitter release; mutations cause the majority of BFIE cases |
| SCN2A | Encodes a sodium channel subunit critical for nerve signal transmission |
| KCNQ2 | Encodes potassium channel subunits essential for controlling neuronal electrical activity |
| KCNQ3 | Works with KCNQ2 to form a potassium channel that helps regulate electrical signals in neurons |
| SCN8A | Encodes another sodium channel subunit involved in neuronal excitability |
| ATP1A2 | Encodes a sodium-potassium pump that maintains electrical balance in nerve cells |
Why is a Benign Infantile Epilepsy Gene Panel Test Done?
This test is ordered when a child experiences seizures in infancy, and a genetic cause needs to be identified. It helps confirm a diagnosis, guides clinical management, and provides families with important information about inheritance risks.
Common Symptoms That May Require This Test
A doctor may recommend this test when an infant shows one or more of the following:
- Brief, clustered seizures occurring multiple times in a day
- Sudden unresponsiveness or staring episodes
- Eye or head deviation to one side
- Jerking or clonic movements of the arms or legs
- Bluish discolouration of the skin (cyanosis) during an episode
- Eyelid fluttering or grunting sounds
- Brief loss of consciousness
Conditions This Test Can Help Detect
This test can help identify the following conditions:
- Benign familial infantile epilepsy (BFIE), a genetic epileptic syndrome with seizures typically occurring between 3 and 8 months of age in otherwise healthy infants
- Benign familial neonatal epilepsy (BFNE) and benign familial neonatal-infantile epilepsy (BFNIE)
- Paroxysmal kinesigenic dyskinesia (PKD), which causes sudden involuntary movements triggered by rapid motion
- Infantile convulsions with choreoathetosis (ICCA)
- KCNQ2-related neonatal-onset developmental and epileptic encephalopathy (NEO-DEE)
How to Prepare and What to Expect
Preparation for this test is straightforward, but providing accurate background information is essential for a meaningful result.
Do You Need to Fast?
No fasting is required before this test. There are no dietary restrictions.
Practical Tips Before Your Test
Keep the following in mind before attending your appointment:
- Bring a detailed clinical history, including your child's seizure description, age of onset, and any family history of seizures or involuntary movements, as this is required for the test
- Carry records of any previous test results, brain scans, or EEG reports
- Inform the laboratory or doctor of any medications the child is currently taking
- Pre-test genetic counselling is strongly recommended so that families understand what the results may mean for them
- Wear comfortable clothing that allows easy access to the arm for blood collection
Step-by-Step Procedure
This test accepts three sample types. The method of collection depends on clinical circumstances and the treating doctor's recommendation.
Peripheral Blood Collection:
- A trained phlebotomist cleans the skin on the child's arm with an antiseptic.
- A small blood sample of approximately 3 ml is drawn using a fine needle into a lavender-top EDTA tube.
- The sample is labelled with the child's details and securely packaged.
- The sample is refrigerated and dispatched to the genetics laboratory on the same day.
- DNA is extracted, and the epilepsy-associated genes are analysed using NGS technology.
- A detailed report is prepared and delivered within 35 days.
Chorionic Villus (CVS) Collection (Prenatal):
- A gynaecologist or maternal-foetal medicine specialist collects approximately 30 mg of chorionic villus tissue using a sterile procedure.
- The sample is placed in a sterile white container.
- It is stored at 2 to 8 degrees Celsius and sent promptly to the laboratory.
- The sample is processed and analysed using NGS.
- A report is issued within 35 days.
Amniotic Fluid Collection (Prenatal):
- A specialist collects approximately 5 ml of amniotic fluid using a sterile Falcon tube via amniocentesis.
- The sample is labelled and refrigerated immediately.
- It is dispatched to the genetics laboratory for DNA extraction and gene analysis.
- Results are available within 35 days.
Factors That Can Affect Accuracy
The following factors may influence the reliability of results:
- An incomplete or absent clinical history was provided at the time of testing
- Recent blood transfusions or bone marrow transplantation, which can affect DNA analysis
- Mosaicism (where only some cells carry a mutation), which may lower detection rates
- Pseudogene interference or highly similar DNA regions that are technically difficult to sequence
- Mislabelled samples or incorrect representation of family relationships
Understanding Your Benign Infantile Epilepsy Gene Panel Test Results
Results from this test should always be reviewed with a qualified medical geneticist or paediatric neurologist. The table below explains how findings are typically classified.
| Finding | Interpretation |
|---|---|
| Pathogenic variant detected | A disease-causing mutation has been found, confirming a genetic diagnosis |
| Likely pathogenic variant | The mutation is probably disease-causing and supports the diagnosis |
| Variant of uncertain significance (VUS) | The clinical significance of this change is currently unclear; further testing may be needed |
| Likely benign or benign | A normal DNA variation; not expected to cause disease |
| No variants detected (Negative) | No disease-causing mutations found in the genes tested |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your child's age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
While genetic results cannot be changed, families can take steps to support the best possible outcome for their child:
- Follow up regularly with a paediatric neurologist to track the child's development and seizure activity, as most children with benign infantile epilepsy show spontaneous remission by age two
- Seek genetic counselling after receiving results to understand inheritance patterns and the likelihood of the condition recurring in siblings or future children
- Keep a detailed seizure diary to share with the treating doctor, noting frequency, duration, and any triggers
Lupin Diagnostics Benign Infantile Epilepsy Gene Panel Test Price
The Benign Infantile Epilepsy Gene Panel Test is priced starting at ₹21,600 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test due to the specialised nature of sample collection and handling requirements.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your Benign Infantile Epilepsy Gene Panel Test online:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
Benign infantile epilepsy, also called self-limited infantile epilepsy, is a genetic syndrome that causes seizures in babies and young children, typically starting between 3 and 8 months of age. Most children grow out of the condition within a year or two and do not experience lasting developmental harm. The Benign Infantile Epilepsy Gene Panel Test helps identify the specific genetic cause.
Seizures usually appear between 3 and 8 months of life and often occur in clusters, with multiple brief episodes happening over a few days. Each episode typically lasts between 2 and 5 minutes. A doctor will usually recommend genetic testing once this pattern is identified.
Mutations in PRRT2, SCN2A, and KCNQ2 are the most common genetic causes. PRRT2 mutations account for the large majority of self-limited infantile epilepsy cases, with some studies indicating they are present in over 90% of affected individuals with this specific diagnosis.
The Benign Infantile Epilepsy Gene Panel Test procedure involves detailed DNA analysis using next-generation sequencing, which takes time. Results are typically available within 35 days of the laboratory receiving the sample.
Yes, it most commonly follows an autosomal dominant inheritance pattern, meaning a child has approximately a 50% chance of inheriting the condition if one parent carries the mutation. However, around one-third of cases occur without any family history of epilepsy.
A negative result means no disease-causing mutations were found in the genes included in this panel. It does not completely rule out a genetic cause, as the mutation may lie in a gene not yet linked to the condition or not included in the current panel. Your doctor will discuss the next steps based on the clinical picture.
Genetic test results are interpreted in the context of the patient's symptoms, age of onset, seizure type, and family history. Without this information, it is difficult for the laboratory to provide an accurate and meaningful report. Please bring a detailed clinical history, previous test results, and any relevant medical records when submitting your sample.
Benign Infantile Epilepsy Gene Panel Test: Booking, Price, and Results
