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CACNB4 Gene Episodic ataxia type 5 NGS Genetic Test

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CACNB4 Gene Episodic ataxia type 5 NGS Genetic Test

Short Name: CACNB4 EA5 NGS

Also known as: Episodic Ataxia Type 5 Genetic Test, EA5 NGS Genetic Test, CACNB4 Gene Sequencing

CACNB4 Gene Episodic ataxia type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation when indicated on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are usually delivered in 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

This NGS-based genetic test is performed to identify disease-causing mutations in the CACNB4 gene, which helps diagnose Episodic Ataxia Type 5 and provides risk information for at-risk family members.

Test Code
4094
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually delivered in 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger confirmation when indicated
Step 1

Sample Collection

No fasting is required. A clinical history and pedigree chart should be prepared. Pre-test genetic counselling is recommended to discuss the purpose and implications of the test.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A small blood sample will be collected from a vein by a trained phlebotomist. Alternatively, a few drops of blood may be placed on an FTA card as instructed.

Step 3

Report Delivery

No special precautions are needed. You may resume normal diet and activities immediately after sample collection.

Timeline: Reports are usually delivered in 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Complete a detailed clinical history form and meet a genetic counsellor to draw a family pedigree. No fasting or dietary restriction is needed.
2
During the Test:The blood sample is collected by venipuncture or FTA card spot collection. The procedure is quick and routine.
3
After the Test:The sample is transported to the laboratory at appropriate temperature. The report is shared online and on WhatsApp within 3 to 4 weeks.

About This Test

Who Should Get This Test

This NGS-based genetic test is performed to identify disease-causing mutations in the CACNB4 gene, which helps diagnose Episodic Ataxia Type 5 and provides risk information for at-risk family members.

How to Prepare

  • Provide the test request form with complete clinical history
  • Attend the genetic counselling session before sample collection
  • Store blood sample at room temperature and transport to the laboratory within 24 hours
  • Label all sample tubes with patient name and unique ID
  • Ensure FTA card is air-dried and stored in a sterile envelope if used

Doctor's Notes

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

"This genetic test should be interpreted in the context of the patient's clinical presentation and family history. Pre-test and post-test genetic counselling are strongly recommended."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: 24-48 hours at 2-8°C
Extracted DNA: 2 weeks at -20°C
FTA card blood spot: stable for several months at room temperature
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Improperly labelled sample
  • Sample received in non-sterile or leaking container
  • FTA card with insufficient blood spots
  • Sample received after prolonged delay without preservation

Understanding Your Results

Results are reported as positive, negative, or variant of uncertain significance (VUS). A positive result confirms a CACNB4-related EA5 diagnosis. A negative result does not exclude all genetic causes of ataxia. VUS may require familial segregation testing.
📊

Positive

Clinical action: Confirms the clinical diagnosis of Episodic Ataxia Type 5; genetic counselling and family screening are advised

📊

Negative

Clinical action: Does not rule out other genetic or acquired causes of ataxia; consider broader ataxia gene panel

📊

Variant of Uncertain Significance (VUS)

Clinical action: Further testing of family members may help classify the variant; correlate with clinical findings

⚠️ When to Consult a Doctor:

If you or a family member experience repeated episodes of unsteady gait, imbalance, tremor, or difficulty speaking, consult a neurologist or clinical geneticist for evaluation and genetic testing.

Limitations

  • ⚠This test is limited to analysis of the CACNB4 gene and does not rule out other forms of episodic ataxia
  • ⚠NGS may not reliably detect deep intronic mutations, large genomic rearrangements, or repeat expansions unless specifically analysed
  • ⚠Variants of uncertain significance may require additional family segregation studies
  • ⚠This test is not intended for prenatal diagnosis without prior genetic counselling

Risks & Considerations

  • ●Mild pain or bruising at the venepuncture site
  • ●Minimal risk of infection
  • ●Psychological distress related to test results or genetic counselling

Interfering Factors

  • ●Insufficient or degraded DNA
  • ●Sample contamination during collection or processing
  • ●Recent allogeneic blood transfusion
  • ●Bone marrow transplantation causing mixed DNA profile
  • ●Variants outside the regions analysed may not be detected

Compare With Similar Tests

TestCACNB4 Gene Episodic ataxia type 5 NGS Genetic Test
ComparisonCACNB4 Gene Episodic ataxia type 5 NGS Genetic Test

Frequently Asked Questions

What is the CACNB4 Gene Episodic Ataxia Type 5 NGS Genetic Test?
It is a next-generation sequencing test that checks for mutations in the CACNB4 gene associated with Episodic Ataxia Type 5, a rare inherited neurological disorder.
What does a positive CACNB4 result mean?
A positive result means a pathogenic variant was found in the CACNB4 gene, confirming the genetic diagnosis of Episodic Ataxia Type 5.
What is the cost of this test at DNA Labs India?
The CACNB4 Gene Episodic Ataxia Type 5 NGS Genetic Test costs Rs. 20,000 at DNA Labs India, which includes free home collection across many cities.
Is fasting required before the test?
No, fasting is not required. This is a genetic test based on DNA analysis, so eating and drinking normally does not affect the result.
What type of sample is needed for this NGS test?
The test can be performed on blood, extracted DNA, or a few drops of blood placed on an FTA card.
How long will the CACNB4 genetic test report take?
The report is generally available in 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in major cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, and many others.
How does NGS help in diagnosing Episodic Ataxia Type 5?
NGS technology sequences multiple genes simultaneously, allowing accurate detection of CACNB4 mutations and helping differentiate EA5 from other hereditary ataxias.
Who should take this test?
People with symptoms of episodic ataxia, unexplained balance problems, a family history of EA5, or a known CACNB4 mutation in the family may benefit from this test.
Will this test detect all types of ataxia?
No, this test only analyses the CACNB4 gene. It will not detect other genetic causes of ataxia. A comprehensive ataxia panel may be needed in such cases.
Can this test be done for children?
Yes, the test can be done for children when clinically indicated, but it requires parental consent and should be accompanied by genetic counselling.
Are there any risks in genetic testing?
There is no major medical risk. Blood collection may cause minor bruising. Some people may feel emotional stress after receiving genetic results, which is why counselling is provided.
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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