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EFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic Test

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EFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic Test

Short Name: EFHC1 Epilepsy NGS

Also known as: EFHC1 Gene Epilepsy Test, Juvenile Absence Epilepsy Type 1 Genetic Test, EFHC1 Mutation Analysis, EFHC1 NGS Genetic Test

EFHC1 Gene Epilepsy, juvenile absence type 1 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 after sample submission. Free home collection in 300+ cities across India.

NGS Genetic TestChildren, Adolescents and Adults🏠 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 EFHC1 gene NGS genetic test is used to detect disease-causing variants in the EFHC1 gene in individuals with clinical features of juvenile absence epilepsy. It supports diagnosis, helps differentiate from other genetic epilepsies, guides genetic counselling and provides information for family members.

Test Code
4085
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample submission
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. It is important to provide the clinical history, EEG findings and a three-generation family pedigree to the laboratory.

Method: Peripheral blood draw, DNA submission, or dried blood spot on FTA card

Step 2

Laboratory Analysis

A small volume of blood is collected from a vein in the arm, or a few drops of blood are collected on an FTA card, depending on the clinician's instructions.

Step 3

Report Delivery

The sample is labeled and transported to the DNA Labs India facility at room temperature. The report will be shared within 3 to 4 weeks.

Timeline: 3 to 4 weeks after sample submission

Patient Instructions

1
Before the Test:No fasting required. Carry any previous EEG or imaging reports and medication history.
2
During the Test:A trained phlebotomist will collect blood in an EDTA tube or spot blood on an FTA card. The procedure usually takes less than five minutes.
3
After the Test:The sample is couriered to the lab. Reports will be available within 3 to 4 weeks through the chosen delivery mode.

About This Test

Who Should Get This Test

The EFHC1 gene NGS genetic test is used to detect disease-causing variants in the EFHC1 gene in individuals with clinical features of juvenile absence epilepsy. It supports diagnosis, helps differentiate from other genetic epilepsies, guides genetic counselling and provides information for family members.

How to Prepare

  • For blood: collect in EDTA vacutainer and mix gently
  • For FTA card: apply one drop of blood on the indicated circle and air dry
  • Label the sample with patient name, date and time of collection
  • Store the sample away from direct sunlight and extreme heat

Doctor's Notes

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

"A diagnosis of juvenile absence epilepsy is based on clinical features and EEG. Genetic testing for EFHC1 adds a confirmatory layer and supports accurate recurrence-risk counselling when a variant is found. It should be combined with pre- and post-test genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer for blood; sterile vial for extracted DNA; FTA card for dried blood spot
Collection MethodPeripheral blood draw, DNA submission, or dried blood spot on FTA card

Sample Stability

Whole blood (EDTA): up to 48 hours at 2-8°C
Extracted DNA: stable for several weeks at -20°C
FTA card: stable for extended periods at room temperature when stored dry
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample quantity
  • Mislabeled or unlabeled sample
  • Sample received in an incompatible transport medium

Understanding Your Results

This is a qualitative genetic test. It reports whether a pathogenic variant in EFHC1 is present. Results should always be interpreted by a clinical geneticist together with the patient's clinical picture and family history.
📊

Pathogenic variant detected

Consistent with EFHC1-related juvenile absence epilepsy; clinical correlation is required.

📊

No pathogenic variant detected

Reduces but does not exclude EFHC1-related epilepsy; broader genetic testing may be considered.

📊

Variant of uncertain significance

Further family segregation testing may help clarify its role.

⚠️ When to Consult a Doctor:

If recurrent episodes of blank staring, brief loss of awareness, or seizures are observed, medical evaluation should be sought from a neurologist. A clinical geneticist can help if a hereditary cause is suspected.

Limitations

  • ⚠This test is limited to the EFHC1 gene and does not rule out other genetic causes of epilepsy
  • ⚠Variants of uncertain significance may be reported and require further family studies
  • ⚠Large structural rearrangements or deep intronic variants may not be detected by standard NGS
  • ⚠Genetic test results must be interpreted with clinical findings and family history

Risks & Considerations

  • ●Minor pain or bruising at the needle site
  • ●Dizziness during blood collection
  • ●Infection is rare when standard sterile precautions are used

Interfering Factors

  • ●Insufficient quantity or poor quality DNA
  • ●Sample mix-up or mislabeling
  • ●Contamination of FTA card
  • ●Sample collected in the wrong anticoagulant

Compare With Similar Tests

TestEFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic Test
ComparisonEFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic Test

Frequently Asked Questions

What is the EFHC1 gene epilepsy test?
It is a next-generation sequencing genetic test that looks for mutations in the EFHC1 gene, which is associated with juvenile absence epilepsy type 1.
What symptoms are linked to EFHC1 gene mutations?
Symptoms can include brief absence seizures with staring spells, eyelid fluttering, myoclonic seizures, generalized tonic-clonic seizures and febrile seizures.
How is juvenile absence epilepsy diagnosed?
It is diagnosed with clinical examination, seizure history, EEG findings and, when indicated, genetic testing to identify an EFHC1 gene mutation.
Does the test require fasting?
No. Fasting is not required for this NGS genetic test.
What sample is needed for the EFHC1 gene NGS test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
What is the cost of the test?
The test costs Rs 20000.0 in India at DNA Labs India.
How long does the report take?
The reports are available within 3 to 4 weeks after the sample reaches the lab.
What does a positive EFHC1 test result mean?
A positive result means a disease-causing variant was found in the EFHC1 gene, supporting a diagnosis of EFHC1-related juvenile absence epilepsy.
What does a negative EFHC1 test result mean?
A negative result means no pathogenic EFHC1 variant was detected; it reduces the likelihood of EFHC1-related epilepsy but does not exclude other genetic causes.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India.
Is EFHC1 genetic testing covered by insurance?
Coverage varies. Patients should check with their insurance provider because genetic testing is often not routinely covered.
Can this test be used for family members?
It may be used for at-risk family members after a pathogenic variant has been identified in the family, but testing should be arranged through genetic counselling.
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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