Benign Infantile Epilepsy Gene Panel
Benign Infantile Epilepsy Gene Panel Price
Brief Details
What is the Benign Infantile Epilepsy Gene Panel?
The Benign Infantile Epilepsy gene panel is a specialised genetic blood test that looks for changes in specific genes known to cause epilepsy beginning in infancy. These conditions are often characterised by seizures that start in the first year of life but usually have a favourable long term outcome.
The test analyses your DNA from a blood sample using advanced Next Generation Sequencing technology. It helps doctors identify the genetic cause of seizures, confirm the diagnosis, and distinguish benign epilepsy syndromes from more severe childhood epilepsy conditions.
What Does the Benign Infantile Epilepsy Gene Panel Measure?
This genetic test examines genes involved in brain signalling and nerve cell activity:
- Detection of disease causing genetic variants linked to benign infantile epilepsy
- Identification of the specific gene responsible for seizure onset in infancy
- Differentiation between benign epilepsy and epileptic encephalopathies
- Support for treatment planning and prognosis assessment
Benign Infantile Epilepsy Gene Panel: Who Needs It and Why It’s Done
What Symptoms May Call for a Benign Infantile Epilepsy Gene Panel?
Your doctor may suggest this test if an infant shows signs such as:
- Recurrent seizures starting in early infancy
- Brief focal or generalised seizures with normal development
- Seizures that respond well to standard anti epileptic medicines
- Family history of infantile seizures with good recovery
Who Should Get a Benign Infantile Epilepsy Gene Panel?
This test is recommended for:
- Infants diagnosed with epilepsy within the first year of life
- Children with suspected benign familial infantile epilepsy
- Patients where seizure type and development suggest a genetic cause
- Families with a history of inherited infantile epilepsy syndromes
- Parents seeking genetic counselling and recurrence risk assessment
Why is the Benign Infantile Epilepsy Gene Panel Done?
The test helps confirm the genetic cause of benign infantile epilepsy, allowing doctors to select appropriate treatment, provide reassurance about prognosis, and avoid unnecessary investigations.
Importance of Benign Infantile Epilepsy Gene Panel
This gene panel plays an important role in early and accurate diagnosis of infantile epilepsy. Identifying the genetic cause helps guide medication choices, predicts seizure outcomes, and reassures families about long term development. It also supports genetic counselling and helps assess the risk of epilepsy in future pregnancies.
Benign Infantile Epilepsy Gene Panel Booking & Reports – Metropolis Healthcare
How to Book the Benign Infantile Epilepsy Gene Panel and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Benign Infantile Epilepsy Gene Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection. - Safe Home Sample Collection
Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols. - Sample Tracking Updates
You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform. - Accurate Laboratory Testing
Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology. - Quick and Easy Reports
Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.
Is Home Sample Collection for Benign Infantile Epilepsy Gene Panel Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the Benign Infantile Epilepsy Gene Panel. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.
In How Much Time Will I Get Benign Infantile Epilepsy Gene Panel Report?
Reports are usually available in about 4 weeks once the sample reaches the laboratory.
Note: Reporting time may vary based on your location.
Where Can I See or Get Benign Infantile Epilepsy Gene Panel Results?
You can access your test results through the Metropolis Healthcare website or mobile app by logging in with your credentials. Reports are also shared via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.
Interpreting Benign Infantile Epilepsy Gene Panel Results
What Your Benign Infantile Epilepsy Gene Panel Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| CHRNA2, KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A | No disease causing variant detected | Benign infantile epilepsy or related inherited epilepsy syndrome | Seizures may be due to non genetic causes or genes not included in this panel |
Understanding Abnormal Benign Infantile Epilepsy Gene Panel Test Results
| Gene | What a Pathogenic Variant May Indicate |
|---|---|
| PRRT2 | Benign familial infantile epilepsy with good long term prognosis |
| KCNQ2, KCNQ3 | Infantile onset epilepsy related to potassium channel dysfunction |
| SCN2A, SCN8A | Sodium channel related epilepsy with variable seizure severity |
| CHRNA2 | Epilepsy linked to altered neuronal receptor signalling |
How Should You Prepare for a Benign Infantile Epilepsy Gene Panel?
This genetic test requires minimal preparation from your side:
- No fasting required: You can eat and drink normally before sample collection
- Medication information: Inform your doctor about all medicines your child is taking
- Clinical history: Share details of seizure onset, frequency, and family history
- Test requisition form: Ensure the completed test requisition form and clinical information are provided
How Is a Benign Infantile Epilepsy Gene Panel Done? (Step-by-Step Procedure)
The test is performed using a standard blood collection process:
- Preparation: A tourniquet is tied around your arm to make veins more visible
- Cleaning: The puncture site is cleaned with antiseptic
- Sample Collection: A sterile needle is used to collect about 3 to 5 ml of blood into an EDTA vacutainer
- Completion: The needle is removed, and a bandage is applied
- Processing: The blood sample is analysed using Next Generation Sequencing to study the listed genes
Conditions That May Affect Benign Infantile Epilepsy Gene Panel Accuracy
Certain patient related factors may influence result interpretation:
- Incomplete clinical or seizure history may limit correlation with genetic findings
- Variants of uncertain significance may require follow up and expert review
- Very early testing may need correlation with clinical course and response to treatment
Diseases That Benign Infantile Epilepsy Gene Panel Can Help Detect
- Benign familial infantile epilepsy
- Self limited infantile epilepsy syndromes
- Genetic epilepsy with favourable prognosis
- Inherited seizure disorders presenting in infancy
References
- Heron S.E., Scheffer I.E., Berkovic S.F., et al. (2002). PRRT2 mutations cause benign familial infantile epilepsy. Nature Genetics, 30(3), 335–338. PMID: 11818964
- Miceli F., Soldovieri M.V., Martire M., et al. (2013). KCNQ2 related epilepsies: From benign neonatal seizures to severe epileptic encephalopathy. Epilepsia, 54(8), 1433–1441. PMID: 23790089
- Liao Y., Anttonen A.K., Liukkonen E., et al. (2010). SCN2A mutations in epilepsy syndromes. Neurology, 75(12), 1000–1008. PMID: 20837959
- Zara F., Specchio N., Striano P., et al. (2013). Genetic testing in benign epilepsies of infancy. Epilepsia, 54(6), 985–992. PMID: 23659533
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