ARHGEF9 Gene Early infantile epileptic encephalopathy type 8 NGS Genetic Test
Short Name: ARHGEF9 Gene EIEE8 NGS Test
Also known as: ARHGEF9 NGS Test, EIEE8 Genetic Test, ARHGEF9 Gene Sequencing
ARHGEF9 Gene Early infantile epileptic encephalopathy type 8 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 after the laboratory receives the sample.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or exclude a molecular diagnosis of Early Infantile Epileptic Encephalopathy type 8 caused by ARHGEF9 gene variants. It also helps guide treatment decisions, prognosis, and recurrence-risk counselling for the family.
- Test Code
- 4046
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The doctor or genetic counsellor will record the clinical history and family history. Informed consent should be obtained before testing.
Method: Peripheral blood draw / FTA card blood spot / submitted DNA sample
Laboratory Analysis
A small blood sample is collected in an EDTA tube, or one drop of blood is placed on an FTA card. Extracted DNA may also be submitted if available.
Report Delivery
No special precautions are needed. The sample is transported to the laboratory under recommended conditions for NGS analysis.
Timeline: 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or exclude a molecular diagnosis of Early Infantile Epileptic Encephalopathy type 8 caused by ARHGEF9 gene variants. It also helps guide treatment decisions, prognosis, and recurrence-risk counselling for the family.
How to Prepare
- Submit a properly labelled sample with patient name, date of birth, and clinical indication
- Provide the completed clinical history and pedigree chart from the genetic counselling session
- Inform the laboratory if the patient has received a blood transfusion recently, if relevant
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic counselling should always accompany epilepsy gene panel testing, especially in Early Infantile Epileptic Encephalopathy, to help families understand inheritance pattern and recurrence risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or visibly degraded blood sample
- Insufficient sample volume or quantity of DNA
- Unlabelled or mismatched sample
- Sample received without the completed test request form
Understanding Your Results
If your child has repeated seizures, developmental delay, low muscle tone, poor feeding, or a family history of genetic epilepsy, consult a paediatric neurologist or clinical geneticist for evaluation.
Limitations
- ⚠NGS may not detect large structural rearrangements, repeat expansions, or deep intronic variants unless specifically validated
- ⚠Variants of uncertain significance may require additional family-segregation studies
- ⚠A negative result does not exclude all genetic or non-genetic causes of EIEE
Risks & Considerations
- ●No significant risk from a routine blood draw; mild bruising or pain at the collection site may occur rarely
- ●In rare cases, an insufficient sample may require a repeat collection
Interfering Factors
- ●Inadequate or degraded DNA
- ●Contamination of the sample during collection or handling
- ●Incorrect sample labeling
- ●Presence of a maternal cell admixture in neonatal blood samples
Compare With Similar Tests
| Test | ARHGEF9 Gene Early infantile epileptic encephalopathy type 8 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | ARHGEF9 Gene Early infantile epileptic encephalopathy type 8 NGS Genetic Test | Targets ARHGEF9 and relevant EIEE genes simultaneously, suitable for etiologic diagnosis of EIEE type 8. | Best used to confirm a known familial variant; not ideal for screening multiple epilepsy genes at once. | Detects large copy-number changes and deletions/duplications, but cannot detect small sequence variants in ARHGEF9. |
Frequently Asked Questions
What is the cost of the ARHGEF9 gene EIEE type 8 NGS genetic test?
Which sample is needed for this test?
Is fasting required before the test?
How is the test performed?
What is the ARHGEF9 gene?
What is early infantile epileptic encephalopathy type 8?
How long does the report take?
Will this test detect other causes of EIEE?
Is genetic counselling needed before this test?
Can the test be done at home?
How accurate is NGS genetic testing for EIEE type 8?
What if the test result is negative but symptoms continue?
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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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