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CACNA1B Gene DYT23 NGS Genetic Test

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CACNA1B Gene DYT23 NGS Genetic Test

Short Name: CACNA1B Gene Test

Also known as: DYT23, Paroxysmal Kinesigenic Dyskinesia 4, PKD4, CACNA1B-related disorder

CACNA1B Gene DYT23 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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, typically childhood onset🏠 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

The purpose of the CACNA1B Gene DYT23 NGS Genetic Test is to identify mutations in the CACNA1B gene that cause Paroxysmal Kinesigenic Dyskinesia 4 (DYT23). This test confirms diagnosis, aids in differential diagnosis from other movement disorders, and supports genetic counseling for affected individuals and families.

Test Code
1583
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
NGS Technology
Step 1

Sample Collection

Clinical history review and genetic counseling recommended.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Blood sample or saliva collection under sterile conditions.

Step 3

Report Delivery

Sample sent to laboratory for analysis; results available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor or healthcare provider. Provide clinical history and family pedigree.
2
During the Test:Sample collection: blood or saliva. No special precautions needed.
3
After the Test:Wait for results in 3-4 weeks. Genetic counseling recommended for result interpretation.

About This Test

Who Should Get This Test

The purpose of the CACNA1B Gene DYT23 NGS Genetic Test is to identify mutations in the CACNA1B gene that cause Paroxysmal Kinesigenic Dyskinesia 4 (DYT23). This test confirms diagnosis, aids in differential diagnosis from other movement disorders, and supports genetic counseling for affected individuals and families.

How to Prepare

  • Follow kit instructions for sample collection
  • Avoid eating or drinking before blood draw if specified
  • Ensure sample is properly labeled

Doctor's Notes

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

"Genetic testing for DYT23 is crucial for accurate diagnosis and family counseling. I recommend this test for patients with suspected movement disorders to guide management and risk assessment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerFTA Card or EDTA tube
Collection MethodBlood draw or saliva collection

Sample Stability

Blood samples stable at room temperature for 48 hours
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Inadequate sample volume
  • Incorrect container or labeling

Understanding Your Results

Results of the CACNA1B Gene DYT23 NGS Genetic Test should be interpreted by a qualified geneticist or neurologist. A positive result indicates the presence of pathogenic variants in the CACNA1B gene, confirming DYT23 diagnosis. A negative result does not rule out the disorder if clinical suspicion remains, as other genes may be involved.
📊

Positive

Pathogenic variant detected; confirms DYT23 diagnosis.

📊

Negative

No pathogenic variants detected; consider other genetic or non-genetic causes.

📊

Variant of Uncertain Significance

Further testing or family studies may be needed for interpretation.

⚠️ When to Consult a Doctor:

If you experience recurrent episodes of involuntary movements, especially triggered by sudden motion, or have a family history of movement disorders, consult a neurologist or genetic counselor for evaluation.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Limited to known variants in databases

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Hemolyzed samples
  • ●Insufficient DNA quality
  • ●Contamination

Compare With Similar Tests

TestCACNA1B Gene DYT23 NGS Genetic TestPNKD Gene TestSLC2A1 Gene Test
ComparisonCACNA1B Gene DYT23 NGS Genetic Test

Frequently Asked Questions

What is the CACNA1B Gene DYT23 NGS Genetic Test?
It is a genetic test using Next Generation Sequencing to detect mutations in the CACNA1B gene associated with DYT23, a movement disorder.
What is DYT23?
DYT23 is Paroxysmal Kinesigenic Dyskinesia 4 (PKD4), a rare genetic disorder causing involuntary movements triggered by sudden motions or stress.
What are the symptoms of DYT23?
Symptoms include sudden episodes of involuntary movements (dystonia, chorea) in arms and legs, lasting less than a minute, often starting in childhood.
How is the test performed?
A blood or saliva sample is collected and analyzed using NGS technology to sequence the CACNA1B gene for mutations.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result means pathogenic mutations in the CACNA1B gene were detected, confirming a diagnosis of DYT23.
What does a negative result mean?
A negative result means no pathogenic mutations were found, but it does not rule out DYT23 if clinical symptoms persist; further testing may be needed.
Is the test painful?
The test involves a blood draw or saliva collection, which may cause minor discomfort but is generally not painful.
Is genetic testing necessary for diagnosing DYT23?
Genetic testing confirms diagnosis, helps differentiate from similar disorders, and informs treatment and family planning, though clinical evaluation is primary.
How much does the CACNA1B Gene DYT23 NGS Genetic Test cost?
The test costs INR 20,000, inclusive of kit, collection, and analysis.
Where can I get the test done?
DNA Labs India offers this test with free home collection across India; you can book online or contact us for details.
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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✓ 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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