Early Infantile Epileptic Encephalopathy Gene Panel Test: Booking, Price, and Results

The early infantile epileptic encephalopathy gene panel test is a specialised genetic test that analyses multiple genes associated with severe epilepsy syndromes appearing in the first months of life. It uses Next-Generation Sequencing (NGS) technology to detect disease-causing gene variants. The test is also referred to as the EIEE gene panel or the DEE gene panel. The samples used for analysis include peripheral blood, chorionic villus sample (CVS), and amniotic fluid.

Doctors order this test when a child shows signs that may point to a genetic cause for severe early-onset epilepsy. The following sections explain when the EIEE gene panel is typically recommended.

Common Symptoms That May Require This Test

• Frequent infantile spasms or tonic (muscle-stiffening) seizures, sometimes occurring up to 100 times per day
• Myoclonic (sudden jerking) seizures in the neonatal period or first months of life
• EEG (brain wave) findings showing a burst-suppression pattern or hypsarrhythmia (chaotic brain wave activity)
• Seizures that do not respond to standard anti-epileptic treatment
• Progressive developmental delays alongside ongoing seizures
• Intellectual disability appearing in association with severe seizure activity

Conditions This Test Can Help Detect

• Ohtahara syndrome, a severe epilepsy characterised by frequent tonic spasms from the first months of life
• West syndrome (infantile spasms), which may evolve from Ohtahara syndrome at 3 to 6 months of age
• Lennox-Gastaut syndrome, which typically appears between 1 and 3 years of age
• Dravet syndrome
• Early myoclonic encephalopathy
• Self-limited neonatal epilepsy and early-infantile developmental and epileptic encephalopathy syndrome
• Various other developmental and epileptic encephalopathies (DEEs)

The early infantile epileptic encephalopathy gene panel test may use different sample types depending on the clinical indication. Home collection may be available for peripheral blood. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision. Genetic counselling may be recommended before and after testing.

Peripheral Blood Collection

1. A trained healthcare professional confirms the patient’s identity before sample collection.
2. The skin over the collection site is cleaned with an antiseptic solution.
3. A small blood sample is collected from a vein using a sterile needle.
4. The sample is collected in an EDTA tube (purple/lavender-top tube).
5. The sample is labelled and transported to the laboratory.

Chorionic Villus Sampling (CVS)

1. The doctor explains the procedure and obtains informed consent before collection.
2. A trained specialist collects a small placental tissue sample called chorionic villi under ultrasound guidance.
3. The sample is placed in a sterile container and transported to the laboratory.

Amniotic Fluid Collection

1. The abdomen is cleaned with an antiseptic solution before the procedure.
2. Under ultrasound guidance, a trained specialist collects a small amount of amniotic fluid (fluid surrounding the baby during pregnancy) using a sterile needle.
3. The sample is transferred to a sterile tube and sent to the laboratory.

Results from this test are qualitative, meaning they classify gene variants rather than provide numerical measurements. A specialist will review your results in the context of the child's clinical picture. The table below explains the result categories.

These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.

Research indicates that approximately 1 in 4 to 5 patients tested via epilepsy gene panels receive a definitive genetic diagnosis. A negative result does not entirely rule out a genetic cause.

This is a genetic test, and gene variants are not changed by lifestyle. However, early diagnosis can still make a meaningful difference.

• An early genetic diagnosis may guide more targeted clinical management; studies show that management changes were made in approximately 36% of patients following a genetic diagnosis of developmental and epileptic encephalopathy.
• Genetic counselling after testing helps families understand inheritance patterns and assess the risk of recurrence in future pregnancies.
• Regular follow-up with a paediatric neurologist and clinical assessments remain important regardless of the test result.

The following steps explain how to book the early infantile epileptic encephalopathy gene panel test online.

1. Select the test on the Lupin Diagnostics website.
2. Choose your city and preferred time slot.
3. Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
4. Receive your report via email or WhatsApp within 35 days.