KCNA1 Gene Episodic ataxia type 1 NGS Genetic Test
Short Name: KCNA1 EA1 NGS Test
Also known as: KCNA1 Genetic Test, Episodic Ataxia Type 1 Genetic Test, EA1 NGS Test, KCNA1 Mutation Analysis
KCNA1 Gene Episodic ataxia type 1 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 The final clinical report and raw data files are generally issued within 3 to 4 weeks after the sample reaches the DNA Labs India 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
The primary purpose of this NGS genetic test is to identify clinically significant variants in the KCNA1 gene associated with Episodic Ataxia Type 1. It helps confirm the clinical diagnosis, establish the genetic basis for family studies, and provide recurrence risk information for future generations.
- Test Code
- 4092
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The final clinical report and raw data files are generally issued within 3 to 4 weeks after the sample reaches the DNA Labs India laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please bring any previous neurological investigation reports and relevant family medical history. A genetic counseling session will be arranged to prepare a pedigree chart.
Method: Venipuncture or Dried Blood Spot on FTA Card
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample. If using FTA card, one drop of blood will be applied to the marked area. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal daily activities immediately. The sample will be transported to the laboratory under specified storage conditions for NGS analysis.
Timeline: The final clinical report and raw data files are generally issued within 3 to 4 weeks after the sample reaches the DNA Labs India laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to identify clinically significant variants in the KCNA1 gene associated with Episodic Ataxia Type 1. It helps confirm the clinical diagnosis, establish the genetic basis for family studies, and provide recurrence risk information for future generations.
How to Prepare
- No special preparation or fasting is required
- Please carry a valid physician referral and clinical history
- For FTA card collection, follow the provided instructions for air-drying the card
- Ensure the sample is labeled correctly with patient name and unique ID
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Recurrent episodes of unsteady gait with normal inter-episode neurology warrant genetic evaluation. Targeted gene testing for KCNA1 should be interpreted with the patient's attacks, triggers, and family context."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Incorrectly labeled sample
- FTA card with insufficient blood spots
- Sample exposed to extreme temperature during transport
Understanding Your Results
Positive
A pathogenic or likely pathogenic KCNA1 variant has been identified, supporting a diagnosis of Episodic Ataxia Type 1.
Action: Refer to clinical geneticist and neurologist for management; offer targeted predictive testing to at-risk relatives with genetic counseling.
Negative
No clinically significant KCNA1 sequence variant was detected. This does not fully exclude EA1 or another hereditary ataxia.
Action: Discuss broader episodic ataxia or hereditary ataxia NGS panel with the treating neurologist.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its association with EA1 is not established at this time.
Action: Family segregation studies and clinical correlation are needed. Reclassification may happen as new evidence emerges.
Consult a doctor if the patient experiences recurrent attacks of dizziness, unsteady gait, difficulty speaking, trembling, or muscle twitching, especially after exercise, stress, or sudden movements. Early neurological evaluation and genetic counseling may help confirm the diagnosis and guide family testing.
Limitations
- ⚠NGS may not detect large gene rearrangements, deep intronic variants, or repeat expansions
- ⚠A negative result does not exclude a non-genetic cause or a variant in another gene
- ⚠Variants of uncertain significance may require additional family studies
- ⚠Test is not intended for prenatal diagnosis unless specifically requested and validated
- ⚠Results must be interpreted by a qualified geneticist along with neurological evaluation
Risks & Considerations
- ●Minimal risk of bruising or soreness at the venipuncture site
- ●Rare fainting or lightheadedness during blood collection
- ●No significant medical risk is associated with genetic testing itself
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Sample contamination during collection
- ●Incomplete clinical or family history
- ●Prior allogeneic bone marrow transplant may affect germline results
Compare With Similar Tests
| Test | KCNA1 Gene Episodic ataxia type 1 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | KCNA1 Gene Episodic ataxia type 1 NGS Genetic Test |
Frequently Asked Questions
What is the KCNA1 gene Episodic Ataxia Type 1 NGS genetic test?
What is the cost of the KCNA1 gene EA1 NGS genetic test in India?
Which sample is required for this test?
Does this test require fasting?
How long does the report take?
What does a positive result mean?
What if the result is negative?
Can this test tell me about the risk to my children?
Is genetic counseling included with this test?
Will I receive raw data files?
Where is free home sample collection available?
Can EA1 symptoms appear in adulthood?
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