CSTB Gene Unverricht-Lundborg disease NGS Genetic Test
Short Name: CSTB Gene ULD NGS Test
Also known as: Progressive Myoclonic Epilepsy Type 1, EPM1
CSTB Gene Unverricht-Lundborg disease 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.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the CSTB gene associated with Unverricht-Lundborg disease, providing a definitive diagnosis for individuals presenting with symptoms such as progressive myoclonus epilepsy, seizures, and ataxia. It aids in differentiating ULD from other neurological disorders and guides clinical management and genetic counseling.
- Test Code
- 4603
- 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
Sample Collection
No specific preparation required. Provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture for blood
Laboratory Analysis
A blood sample will be collected via venipuncture, or an alternative sample type as specified.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store sample as instructed before shipping.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the CSTB gene associated with Unverricht-Lundborg disease, providing a definitive diagnosis for individuals presenting with symptoms such as progressive myoclonus epilepsy, seizures, and ataxia. It aids in differentiating ULD from other neurological disorders and guides clinical management and genetic counseling.
How to Prepare
- Use sterile equipment
- Label samples correctly
- Transport at ambient temperature
- Avoid hemolysis for blood samples
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for CSTB gene mutations is crucial for confirming Unverricht-Lundborg disease and guiding treatment strategies to manage seizures and improve quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of Unverricht-Lundborg disease. Genetic counseling and management planning recommended.
No pathogenic mutation detected
ULD unlikely based on genetic testing. Consider other diagnoses or additional genetic tests.
Consult a neurologist or geneticist if symptoms such as seizures, myoclonus, or ataxia persist, or if genetic test results are positive for further management.
Limitations
- ⚠May not detect all possible mutations in the CSTB gene
- ⚠Results should be correlated with clinical findings
- ⚠Not a substitute for comprehensive clinical evaluation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample storage
Compare With Similar Tests
| Test | CSTB Gene Unverricht-Lundborg disease NGS Genetic Test | EEG | MRI Brain |
|---|---|---|---|
| Comparison | CSTB Gene Unverricht-Lundborg disease NGS Genetic Test | EEG detects abnormal brain activity but cannot identify genetic mutations; genetic test provides definitive diagnosis. | MRI may show structural changes but is not specific for ULD; genetic test confirms underlying cause. |
Frequently Asked Questions
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