CNTNAP2 Gene Cortical dysplasia-focal epilepsy syndrome NGS Genetic Test
Short Name: CNTNAP2 NGS Test
Also known as: CNTNAP2 gene mutation test, Cortical dysplasia-focal epilepsy syndrome genetic test, CNTNAP2 NGS sequencing test
CNTNAP2 Gene Cortical dysplasia-focal epilepsy syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing Confirmation (if required) on Blood or Extracted DNA or one drop Blood on FTA Card samples. Results in 3 to 4 weeks from the date the sample reaches the 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 purpose of this NGS genetic test is to detect disease-causing variants in the CNTNAP2 gene and confirm a clinical diagnosis of cortical dysplasia-focal epilepsy syndrome. It also supports genetic counselling and recurrence-risk assessment for affected families.
- Test Code
- 3983
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or one drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from the date the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing Confirmation (if required)
Sample Collection
No fasting is required. Attend the genetic counselling session to discuss the test and provide relevant family history.
Method: Peripheral venous phlebotomy or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample in an EDTA tube or a blood spot on an FTA card. The procedure takes about 5-10 minutes.
Report Delivery
No restrictions are required after sample collection. You may resume normal activities and await the report.
Timeline: 3 to 4 weeks from the date the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing variants in the CNTNAP2 gene and confirm a clinical diagnosis of cortical dysplasia-focal epilepsy syndrome. It also supports genetic counselling and recurrence-risk assessment for affected families.
How to Prepare
- No fasting required.
- Use EDTA vacutainer for blood collection.
- Do not freeze whole blood.
- If using FTA card, allow the blood spot to air dry completely before sealing.
- Label the sample clearly with patient name and unique identification.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"When cortical dysplasia-focal epilepsy syndrome is suspected, a referral to a clinical geneticist is strongly advised. Pre-test genetic counselling helps the family understand the inheritance pattern, recurrence risk and implications for other at-risk relatives."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Incorrect anticoagulant tube
- Insufficient sample quantity
- Unlabelled or mislabelled sample
- Sample exposed to extreme temperature during transport
Understanding Your Results
Pathogenic or Likely Pathogenic variant
Consistent with a molecular diagnosis of CNTNAP2-related cortical dysplasia-focal epilepsy syndrome if the clinical phenotype matches. Genetic counselling is strongly recommended.
Variant of Uncertain Significance (VUS)
Insufficient evidence currently exists to determine pathogenicity. Additional family studies and clinical correlation may help reclassify the variant.
Benign or Likely Benign variant
No clinical significance and does not explain the patient's symptoms.
No pathogenic variant detected
Reduces the likelihood of CNTNAP2-related disorder but does not exclude it. Consider broader genetic testing if clinical suspicion remains high.
Consult a neurologist or clinical geneticist if seizures, developmental delays, speech regression or a family history of CNTNAP2-related disorder is present. If a pathogenic CNTNAP2 variant is identified, formal genetic counselling is recommended for reproductive and family planning decisions.
Limitations
- ⚠This test only analyses the CNTNAP2 gene, not all epilepsy-related genes.
- ⚠Large structural rearrangements, deep intronic variants and certain complex variants may not be detected by targeted NGS.
- ⚠A negative result does not completely rule out CNTNAP2-related disorder.
- ⚠Variants of uncertain significance require further familial studies and clinical correlation.
Risks & Considerations
- ●Mild bruising at the venepuncture site
- ●Slight dizziness during blood collection
- ●Rare local infection
Interfering Factors
- ●Poor-quality or degraded DNA
- ●Recent blood transfusion or haematopoietic stem cell transplant
- ●Variants located outside the targeted coding and splice-site regions
- ●Maternal cell contamination in submitted samples
Compare With Similar Tests
| Test | CNTNAP2 Gene Cortical dysplasia-focal epilepsy syndrome NGS Genetic Test | ||
|---|---|---|---|
| Comparison | CNTNAP2 Gene Cortical dysplasia-focal epilepsy syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the CNTNAP2 gene NGS genetic test?
What is the CNTNAP2 gene and why is it tested?
What type of sample is required for this test?
Do I need to fast before the CNTNAP2 NGS test?
How long does it take to get the test report?
What does NGS technology detect in this test?
Is home sample collection available?
Who should get this CNTNAP2 genetic test?
How accurate is the CNTNAP2 NGS test?
Does a negative result rule out cortical dysplasia-focal epilepsy syndrome?
How are the results interpreted?
Is genetic counselling included in the test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.