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KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic Test

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KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic Test

Short Name: KCNMA1 Gene Test

Also known as: KCNMA1 Genetic Test, Epilepsy and Dyskinesia Genetic Panel, KCNMA1 Mutation Analysis

KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia 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. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the KCNMA1 gene that cause generalized epilepsy and paroxysmal dyskinesia for accurate diagnosis, management, and genetic counseling.

Test Code
1629
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history of the patient, including symptoms and family history. Undergo a genetic counseling session to draw a pedigree chart of affected family members. Ensure informed consent is obtained.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm. For FTA card, a single drop of blood is sufficient. Follow standard phlebotomy procedures to ensure sample integrity.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities unless advised otherwise. Store samples as per instructions if not collected at home.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:As per before_collection: provide clinical history, genetic counseling, and informed consent.
2
During the Test:DNA extraction and Next Generation Sequencing (NGS) analysis performed in the lab to detect mutations in the KCNMA1 gene.
3
After the Test:Results compiled into a comprehensive report with interpretation. Genetic counseling provided post-test to discuss findings and next steps.

About This Test

Who Should Get This Test

To identify mutations in the KCNMA1 gene that cause generalized epilepsy and paroxysmal dyskinesia for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • No mandatory fasting required, but avoid heavy meals before collection
  • Stay hydrated and avoid strenuous physical activity before the test
  • Bring identification and prescription or doctor's referral
  • Ensure home collection area is clean and well-lit for the phlebotomist

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This NGS test is essential for accurate diagnosis of KCNMA1-related disorders, enabling targeted therapy and genetic counseling for affected individuals and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml of blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Room Temperature (Ambient)
Refrigerated (2-8°C)
Frozen (-20°C)
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Incorrect sample container or type
  • Samples without proper labeling or consent
  • Contaminated or degraded samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KCNMA1 gene, which are associated with generalized epilepsy and paroxysmal dyskinesia.
Normal Result: No pathogenic variants detected in the KCNMA1 gene, suggesting no genetic cause for symptoms based on this test
Positive Result: Pathogenic variant(s) identified, confirming a genetic basis for the disorder; recommend genetic counseling and clinical management
Variant of Uncertain Significance (VUS): Variant detected but not classified as pathogenic; may require further testing or family studies
Inconclusive Result: Technical issues or insufficient DNA; repeat testing may be needed
⚠️ When to Consult a Doctor:

If experiencing recurrent seizures, uncontrolled movements, or after receiving test results, consult a neurologist or geneticist for interpretation, counseling, and personalized treatment planning.

Limitations

  • ⚠May not detect all possible genetic variants in KCNMA1 gene
  • ⚠Results require interpretation by a qualified genetic counselor
  • ⚠Test is limited to KCNMA1 gene only; other genes not analyzed
  • ⚠False negatives possible in rare cases due to technical limitations

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Small risk of infection at puncture point
  • ●Rare allergic reaction to antiseptic
  • ●Emotional impact of genetic test results

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●DNA degradation due to improper storage
  • ●Incorrect sample type or volume
  • ●Presence of inhibitors in the sample

Compare With Similar Tests

TestKCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic TestSCN1A Gene TestKCNQ2 Gene TestGABRA1 Gene TestEpilepsy Gene PanelMovement Disorder Genetic Panel
ComparisonKCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic Test

Frequently Asked Questions

What is the KCNMA1 gene test?
It is an NGS genetic test that analyzes the KCNMA1 gene for mutations associated with generalized epilepsy and paroxysmal dyskinesia, helping diagnose these neurological disorders.
Who should consider getting this test?
Individuals with symptoms of epilepsy or dyskinesia, unexplained neurological issues, or a family history of KCNMA1-related disorders should consider this test after consulting a doctor.
How is the test performed?
The test involves collecting a blood sample, which is then analyzed using Next Generation Sequencing (NGS) technology to detect mutations in the KCNMA1 gene.
What is the cost of the test?
The cost is INR 20000, which includes home sample collection across India and a comprehensive genetic report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in over 500 cities across India for convenience.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection, and can be accessed via online portal, email, or WhatsApp.
What do the test results mean?
Results may show normal (no mutations), positive (pathogenic variant detected), variant of uncertain significance, or inconclusive. A genetic counselor will help interpret the findings.
Are there any risks associated with the test?
The test involves minimal risks such as bruising at the blood draw site, but overall it is safe. Emotional support is available if results are distressing.
How should I prepare for the test?
No special preparation is needed, but provide clinical history and undergo genetic counseling before the test. Avoid heavy meals before blood collection.
Can children undergo this test?
Yes, the test is suitable for all ages, including children, with parental consent and proper clinical indication.
What happens if the test is positive?
A positive result indicates a genetic mutation causing the disorder. Consult a neurologist or geneticist for treatment options, lifestyle management, and family planning advice.
How accurate is the KCNMA1 gene test?
The test uses advanced NGS technology with high accuracy, but no genetic test is 100% definitive. Results should be interpreted in the context of clinical symptoms and family history.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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