ARX Gene Early infantile epileptic encephalopathy type 1 NGS Genetic Test
Short Name: ARX Gene EIEE1 NGS Test
Also known as: ARX Gene Sequencing, ARX Gene Mutation Analysis, Early Infantile Epileptic Encephalopathy Type 1 Genetic Test
ARX Gene Early infantile epileptic encephalopathy type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Whole Blood / Extracted DNA / FTA Card Blood Spot samples. Results in Results are usually available within 3 to 4 weeks. A detailed report describing the ARX gene analysis and variant interpretation will be delivered online or by email.. 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 primary purpose of this NGS genetic test is to detect sequence variants in the ARX gene and confirm or clarify a clinical diagnosis of early infantile epileptic encephalopathy type 1. It is intended to aid clinicians in diagnosing the genetic cause of seizures and developmental delay and to support genetic counselling for affected families.
- Test Code
- 4025
- Price
- ₹20,000
- Sample Type
- Whole Blood / Extracted DNA / FTA Card Blood Spot
- Result Time
- Results are usually available within 3 to 4 weeks. A detailed report describing the ARX gene analysis and variant interpretation will be delivered online or by email.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is required before the test to draw a pedigree chart and review the clinical history of family members affected with ARX gene EIEE type 1.
Method: Venipuncture or FTA Card Blood Spot Collection
Laboratory Analysis
A small amount of blood is collected by venipuncture, or a few drops of blood are placed on an FTA card, as per the advised sample method.
Report Delivery
The sample is transported to the laboratory at ambient temperature. You may resume regular activities immediately after sample collection.
Timeline: Results are usually available within 3 to 4 weeks. A detailed report describing the ARX gene analysis and variant interpretation will be delivered online or by email.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect sequence variants in the ARX gene and confirm or clarify a clinical diagnosis of early infantile epileptic encephalopathy type 1. It is intended to aid clinicians in diagnosing the genetic cause of seizures and developmental delay and to support genetic counselling for affected families.
How to Prepare
- No fasting is required.
- A genetic counselling session and clinical history are required before sample collection.
- Blood may be collected in an EDTA tube, or a few drops on an FTA card, or extracted DNA may be submitted.
- Please carry the requisition form and confirm the exact test name with the collection team.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"The result of a single-gene test should always be interpreted within the full neurological, imaging, and EEG picture. A genetic counsellor can support families before and after testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Inadequate sample volume
- Improperly labelled sample
- Broken or leaking sample container
- Sample mixed with an incorrect anticoagulant
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Molecular diagnosis is confirmed. Genetic counselling and family screening may be considered.
Variant of uncertain significance identified
This finding is not diagnostic. Further evaluation and segregation analysis in family members may be needed.
No pathogenic variant detected
ARX gene-related EIEE type 1 is not identified. Other genetic and non-genetic causes should be explored.
Consult a pediatric neurologist or clinical geneticist if seizures begin in the first year of life, development is delayed, unusual movements are present, or there is a family history of ARX-related EIEE.
Limitations
- ⚠This is a targeted single-gene test and does not evaluate all epilepsy-related genes.
- ⚠Large exonic deletions or duplications may not be reliably detected by standard NGS and may require additional testing.
- ⚠Deep intronic variants, repeat expansions, or methylation defects in other genes will not be detected.
- ⚠A negative result does not exclude all genetic or non-genetic causes of early infantile epileptic encephalopathy.
Risks & Considerations
- ●Minor bruising or pain at the blood collection site
- ●Rare risk of infection at the venipuncture site
- ●Potential anxiety while waiting for genetic test results
Interfering Factors
- ●Inadequate DNA quality or quantity
- ●Sample degradation during transport
- ●Mosaic variants present below the NGS detection threshold
- ●Variants in genes other than ARX are not covered by this targeted test
- ●Variants of uncertain significance may require family segregation analysis
Frequently Asked Questions
What is the ARX Gene EIEE Type 1 NGS Genetic Test?
How much does the test cost in India?
What sample is required for the test?
Is fasting required before the test?
When will the report be ready?
What is early infantile epileptic encephalopathy type 1?
Who should consider this test?
Is genetic counselling included with the test?
Which technology is used for this test?
Can a negative result completely rule out EIEE?
Is home sample collection available?
How should the test result be interpreted?
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