ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic Test
Short Name: ARHGEF9 NGS Genetic Test
Also known as: ARHGEF9 Gene Sequencing Test, Hyperekplexia Genetic Test, EIEE8 Genetic Test, ARHGEF9 NGS DNA Test
ARHGEF9 Gene Hyperekplexia, EIEE8 related 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 from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To confirm or exclude a pathogenic variant in the ARHGEF9 gene in a patient with clinical features suggestive of hyperekplexia or early infantile epileptic encephalopathy type 8 (EIEE8). The test helps establish a molecular diagnosis, guide medical management, and provide accurate recurrence risk counseling.
- Test Code
- 4143
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. If possible, bring previous medical records, EEG reports, imaging studies, and family history information. Genetic counseling is recommended before the test.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A small blood sample will be collected by a trained phlebotomist. For FTA card collection, a single drop of blood will be placed on the provided card. The procedure is quick and simple.
Report Delivery
There are no activity restrictions after sample collection. The sample will be safely transported to the laboratory for NGS analysis.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm or exclude a pathogenic variant in the ARHGEF9 gene in a patient with clinical features suggestive of hyperekplexia or early infantile epileptic encephalopathy type 8 (EIEE8). The test helps establish a molecular diagnosis, guide medical management, and provide accurate recurrence risk counseling.
How to Prepare
- Choose a DNA Labs India collection center or request free home collection.
- Confirm the patient's full name, date of birth, and contact details.
- Use the provided EDTA vacutainer or FTA card as instructed.
- If FTA card is used, allow the blood spot to air dry completely before packing.
- Transport the sample at ambient temperature in the provided envelope.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For families affected by hyperekplexia or EIEE8, a confirmed genetic diagnosis helps avoid unnecessary investigations and clarifies recurrence risk. I encourage patients to have a genetic counseling session before and after the test so the result can be interpreted in the correct clinical context."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabeled or mislabeled sample
- Clotted blood in EDTA tube
- Sample received in a leaking or damaged bag
- Wet or contaminated FTA card
- Inadequate sample quantity preventing DNA extraction
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant in ARHGEF9 was detected. This supports a clinical diagnosis of ARHGEF9-related hyperekplexia/EIEE8. Genetic counseling and family testing are recommended.
Negative
No pathogenic or likely pathogenic variant was identified in the ARHGEF9 gene. A negative result does not exclude another genetic or non-genetic cause. Additional testing may be considered if clinical suspicion is high.
Variant of uncertain significance (VUS)
A DNA change was found whose effect on protein function is not yet known. Further family segregation analysis, RNA studies, or functional studies may be needed to clarify its significance.
If a pathogenic variant is detected, if a variant of uncertain significance is reported, or if symptoms persist despite a negative ARHGEF9 test, you should consult a clinical geneticist, neurologist, or genetic counselor for further management and family planning.
Limitations
- ⚠NGS may not detect large structural variants, deep intronic variants, promoter changes, or copy number variants unless specifically validated.
- ⚠A negative result does not exclude a genetic cause in another gene or a non-genetic cause.
- ⚠Variant classification may change over time as new evidence becomes available.
- ⚠Prenatal or carrier testing requires separate validation and genetic counseling.
Risks & Considerations
- ●Minimal risk from blood collection, including slight pain, bruising, or very rare infection
- ●FTA card collection is virtually risk-free
- ●Psychological stress from an unexpected result; genetic counseling is recommended before and after testing
Interfering Factors
- ●Incomplete clinical history or incorrect sample labeling
- ●Poor DNA quantity or quality due to improper sample transport or storage
- ●Variant of uncertain significance requiring additional family studies
- ●Mosaic variants that may be below the analytic sensitivity of Sanger confirmation
- ●Concurrent genetic variants in other genes are not analyzed by this targeted test
Compare With Similar Tests
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| Comparison | ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic Test |
Frequently Asked Questions
What is the ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic Test?
What diseases are caused by ARHGEF9 gene mutations?
Who should consider this genetic test?
What is the cost of this test at DNA Labs India?
Which sample is required for the ARHGEF9 NGS test?
Do I need to fast before the test?
When will I get the reports?
How is this NGS test different from routine genetic testing?
What does a positive test mean?
Can a negative result rule out hyperekplexia or EIEE8?
Is genetic counseling recommended before the test?
Is home sample collection available?
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