KCNC1 Gene Epilepsy, progressive myoclonic type 7 NGS Genetic Test
Short Name: KCNC1 Gene Epilepsy NGS Test
Also known as: Progressive Myoclonic Epilepsy Type 7, EPM7, KCNC1-related epilepsy
KCNC1 Gene Epilepsy, progressive myoclonic type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics variant analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from the date of sample receipt.. 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 identify disease-causing variants in the KCNC1 gene in symptomatic individuals, thereby enabling early diagnosis, appropriate medical management, and genetic counselling for families affected by progressive myoclonic epilepsy type 7.
- Test Code
- 4091
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Bioinformatics variant analysis
Sample Collection
No fasting is required. Patients should bring previous medical records, seizure history, and any prior genetic testing reports. A genetic counselling session may be performed to draw a pedigree chart of family members affected with KCNC1-related epilepsy.
Method: Venous blood draw or dried blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect the sample using sterile techniques. For FTA card collection, one drop of blood is applied onto the marked area and allowed to dry completely.
Report Delivery
You may resume normal activities immediately after sample collection. The sample will be transported to the laboratory at the recommended temperature and processed. Reports will be shared within 3 to 4 weeks.
Timeline: Reports are issued within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify disease-causing variants in the KCNC1 gene in symptomatic individuals, thereby enabling early diagnosis, appropriate medical management, and genetic counselling for families affected by progressive myoclonic epilepsy type 7.
How to Prepare
- Use whole blood in an EDTA tube, extracted DNA, or FTA card as advised by the referring clinician.
- For blood collection, fill the EDTA vacutainer and mix gently to prevent clotting.
- For FTA card, apply one drop of blood onto the marked circles and allow to air dry.
- Label the sample with patient name, date of birth, and collection date.
- Transport the sample to DNA Labs India under appropriate temperature conditions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of KCNC1 epilepsy enables a multidisciplinary approach involving neurology and clinical genetics, improves seizure management, and provides accurate recurrence-risk counselling for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Mislabelled or unlabelled specimen
- Sample received in an incorrect container
- Sample transported under extreme temperature conditions
Understanding Your Results
No pathogenic or likely pathogenic variant was detected in the KCNC1 gene. This reduces but does not eliminate the possibility of KCNC1-related epilepsy.
Result type: Negative
A pathogenic or likely pathogenic variant was detected in the KCNC1 gene. This confirms the genetic diagnosis and supports clinical management and family testing.
Result type: Positive
A DNA variant of uncertain clinical significance was detected. Additional family segregation studies and clinical correlation are required before using this result for diagnosis.
Result type: Variant of Uncertain Significance (VUS)
Consult a neurologist or clinical geneticist if you or a family member experiences progressive myoclonus, seizures, ataxia, or cognitive decline. Early genetic testing can guide management, avoid unnecessary investigations, and enable accurate family counselling.
Limitations
- ⚠NGS may not detect large deletions, duplications, structural rearrangements, or deep intronic variants involving KCNC1.
- ⚠Low-level somatic mosaicism may not be confidently detected by standard NGS.
- ⚠A variant of uncertain significance may require family segregation studies and additional clinical correlation.
- ⚠This test does not evaluate variants in other epilepsy-associated genes.
- ⚠A negative result does not completely exclude a genetic cause of epilepsy.
Risks & Considerations
- ●Minimal pain or discomfort at the blood collection site
- ●Bruising or haematoma at the puncture site
- ●Dizziness or light-headedness during or after blood collection
Interfering Factors
- ●Poor sample quality or degraded DNA
- ●Sample contamination
- ●Low depth of coverage in specific gene regions
- ●Bioinformatic challenges due to homologous sequences
- ●Incorrect sample type or collection tube
Compare With Similar Tests
| Test | KCNC1 Gene Epilepsy, progressive myoclonic type 7 NGS Genetic Test | ||
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| Comparison | KCNC1 Gene Epilepsy, progressive myoclonic type 7 NGS Genetic Test |
Frequently Asked Questions
What is KCNC1 gene epilepsy?
What does the KCNC1 NGS genetic test detect?
Who should undergo this test?
What sample is required for the test?
Is fasting required before the test?
How much does the KCNC1 NGS genetic test cost?
Will I receive raw data files with my report?
How long will the report take?
Is home sample collection available?
Can this test rule out all genetic causes of epilepsy?
What does a negative result mean?
Is genetic counselling recommended before testing?
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