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TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic Test

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TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic Test

Short Name: TBC1D24 IME NGS Test

Also known as: Infantile myoclonic epilepsy, TBC1D24-related epilepsy, Early infantile epileptic encephalopathy

TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 TestPediatric🏠 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 NGS Genetic Test is to identify mutations in the TBC1D24 gene associated with familial infantile myoclonic epilepsy. It aids in confirming diagnosis, informing treatment plans such as anticonvulsant therapy or ketogenic diet, and facilitating genetic counseling for family planning and risk assessment.

Test Code
1616
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide accurate clinical history and family pedigree information during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a single drop of blood is sufficient. Collection takes about 10-15 minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities. Store samples as instructed if collected at home.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and test implications. No fasting required.
2
During the Test:A blood sample is collected at a lab or via home collection. The process is minimally invasive.
3
After the Test:Results are available in 3-4 weeks. Follow up with a healthcare professional for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this NGS Genetic Test is to identify mutations in the TBC1D24 gene associated with familial infantile myoclonic epilepsy. It aids in confirming diagnosis, informing treatment plans such as anticonvulsant therapy or ketogenic diet, and facilitating genetic counseling for family planning and risk assessment.

How to Prepare

  • Use aseptic technique for blood collection
  • Label samples correctly with patient details
  • Ship samples at ambient temperature unless specified
  • Avoid hemolyzed or clotted samples

Doctor's Notes

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

"This NGS test is essential for early diagnosis of genetic epilepsy, enabling personalized treatment plans and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Mislabeled or unlabeled samples
  • Contaminated samples

Understanding Your Results

Interpretation of genetic test results should be done in consultation with a clinical geneticist or neurologist. Positive results indicate a pathogenic variant in TBC1D24, confirming genetic basis for epilepsy. Negative results do not completely rule out genetic causes, and variants of uncertain significance (VUS) require further evaluation.
📊

Confirms diagnosis of TBC1D24-related familial infantile myoclonic epilepsy. Guides treatment and genetic counseling.

Result type: Positive for Pathogenic Variant

📊

No pathogenic variants detected in TBC1D24 gene. Consider other genetic or non-genetic causes; clinical correlation advised.

Result type: Negative Result

📊

A genetic variant with unknown clinical impact. Requires monitoring, family studies, or additional testing for clarification.

Result type: Variant of Uncertain Significance (VUS)

📊

High probability of being disease-causing. Correlates with clinical symptoms for diagnosis and management.

Result type: Likely Pathogenic Variant

⚠️ When to Consult a Doctor:

Consult a doctor if your child experiences seizures, developmental delays, or intellectual disability, especially if there is a family history of epilepsy. Seek genetic counseling before and after testing for personalized advice.

Limitations

  • ⚠Test may not detect all possible mutations in the TBC1D24 gene
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic or non-genetic causes of epilepsy
  • ⚠Turnaround time of 3-4 weeks may delay diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results may require counseling support

Interfering Factors

  • ●Poor sample quality or DNA degradation
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions may affect results
  • ●Inadequate clinical information provided

Compare With Similar Tests

TestTBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic TestComprehensive Epilepsy Gene PanelSanger Sequencing for TBC1D24EEG (Electroencephalogram)MRI Brain
ComparisonTBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic Test

Frequently Asked Questions

What is the TBC1D24 gene familial infantile myoclonic epilepsy NGS Genetic Test?
This is a Next-Generation Sequencing (NGS) test that detects mutations in the TBC1D24 gene, which causes familial infantile myoclonic epilepsy, a rare genetic disorder with seizures in young children.
What are the symptoms of familial infantile myoclonic epilepsy?
Symptoms include myoclonic seizures, tonic-clonic seizures, absence seizures, intellectual disability, and delayed development, typically appearing between 6 months and 3 years of age.
How is this test different from other epilepsy tests?
Unlike EEG or MRI, this test identifies genetic mutations in TBC1D24, providing a precise diagnosis for targeted treatment and genetic counseling, rather than just monitoring brain activity.
What is the cost of the test?
The test costs INR 20000.0, which includes sample collection, NGS analysis, and a detailed clinical report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for online bookings, making the test accessible from your location.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card, collected via venipuncture.
Do I need to fast before the test?
No fasting is required for this genetic test. You can eat and drink normally before sample collection.
What should I do before getting tested?
Before testing, undergo a genetic counseling session to draw a pedigree chart of family members affected with epilepsy, which helps in accurate interpretation.
How will the results help in treatment?
Positive results confirm the genetic cause, allowing doctors to tailor treatments such as anticonvulsant medications or ketogenic diet to manage seizures effectively.
Is genetic counseling included with the test?
Yes, DNA Labs India provides a genetic counseling summary with the test report to help interpret results and discuss family planning.
Where can I get more information or book the test?
For more information or to book the test, contact DNA Labs India at info@dnalabsindia.com or visit www.dnalabsindia.com. You can also call +91-XXXXXXXXXX.
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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