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KCTD7 Gene Progressive myoclonus epilepsy type 3 NGS Genetic Test

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KCTD7 Gene Progressive myoclonus epilepsy type 3 NGS Genetic Test

Short Name: KCTD7 Gene EPM3 NGS Test

Also known as: Progressive Myoclonus Epilepsy Type 3, EPM3, KCTD7-related epilepsy

KCTD7 Gene Progressive myoclonus epilepsy type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in Reports are typically available in 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adult🏠 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 this test is to detect mutations in the KCTD7 gene to diagnose Progressive Myoclonus Epilepsy Type 3 (EPM3), aiding in accurate diagnosis, management, and genetic counseling.

Test Code
1803
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
Reports are typically available in 3 to 4 weeks after sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Ensure sample is collected at ambient room temperature.

Method: Venipuncture or finger-prick blood collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick. FTA card may be used for one drop blood under sterile conditions.

Step 3

Report Delivery

Sample stored at appropriate temperature and transported to the laboratory promptly for processing.

Timeline: Reports are typically available in 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing and potential outcomes.
2
During the Test:The test involves DNA extraction from the sample and sequencing using Next-Generation Sequencing (NGS) technology to analyze the KCTD7 gene.
3
After the Test:A detailed clinical report is generated, and genetic counseling is advised to interpret results and plan next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the KCTD7 gene to diagnose Progressive Myoclonus Epilepsy Type 3 (EPM3), aiding in accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Collect sample in sterile conditions using EDTA tube or FTA card.
  • Maintain ambient temperature during transport to prevent degradation.
  • Label samples accurately with patient details.

Doctor's Notes

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

"Genetic testing for KCTD7 mutations is essential for confirming EPM3 diagnosis and guiding family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeAs required for testing
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or finger-prick blood collection

Sample Stability

Blood sample: stable for 24 hours at room temperature.
Extracted DNA: stable for up to 7 days if stored at 2-8°C.
Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Insufficient volume
  • Incorrect container used
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the KCTD7 gene associated with Progressive Myoclonus Epilepsy Type 3.
Positive result: Pathogenic mutation detected, consistent with EPM3 diagnosis; clinical correlation and genetic counseling recommended.
Negative result: No pathogenic mutations found; consider other genetic or non-genetic causes of symptoms.
Variant of uncertain significance: Further testing, family studies, and clinical evaluation advised.
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms of progressive myoclonus epilepsy are present, especially with a family history, for appropriate diagnosis and management.

Limitations

  • ⚠Only analyzes the KCTD7 gene; does not detect other causes of PME.
  • ⚠May not identify all possible mutations.
  • ⚠Requires genetic counseling for interpretation and family planning.

Risks & Considerations

  • ●Psychological impact of genetic results
  • ●Potential for uncertain or unexpected findings
  • ●No significant physical risks from blood collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the KCTD7 Gene Progressive Myoclonus Epilepsy Type 3 NGS Genetic Test?
It is a Next-Generation Sequencing (NGS) test that detects mutations in the KCTD7 gene to diagnose Progressive Myoclonus Epilepsy Type 3 (EPM3), a rare neurological disorder.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is then analyzed using NGS technology to sequence the KCTD7 gene and identify mutations.
What are the symptoms of EPM3?
Symptoms include muscle jerks (myoclonus), seizures, ataxia (coordination issues), dementia, visual impairment, and sleep disturbances, typically starting in childhood or adolescence.
Who should get this test?
Individuals with symptoms of progressive myoclonus epilepsy, especially those with a family history, or for confirmatory diagnosis after initial clinical evaluation.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the KCTD7 gene, confirming a diagnosis of EPM3. Genetic counseling is recommended for management and family planning.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection, NGS testing, and a detailed report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What is the accuracy of the test?
The test uses advanced NGS technology with high accuracy for detecting mutations, but interpretation requires clinical correlation and genetic counseling.
Are there any risks to the test?
There are no physical risks from blood collection, but there may be psychological impacts from results. Genetic counseling helps address these concerns.
Can the test be done for prenatal diagnosis?
This test is primarily for diagnostic purposes in symptomatic individuals. Prenatal testing may be possible through genetic counseling and specialized procedures.
What should I do after receiving the results?
Consult with a neurologist or genetic counselor to understand the results, discuss management options, and consider family screening if appropriate.
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.

LIMS Integration

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.

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