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ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic Test

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ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic Test

Short Name: ETHE1 Gene Test

Also known as: ETHE1 Gene Analysis, Ethylmalonic Encephalopathy Genetic Test

ETHE1 Gene Ethylmalonic encephalopathy 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the ETHE1 gene to confirm a diagnosis of ethylmalonic encephalopathy, aiding in clinical management, genetic counseling, and family planning.

Test Code
1610
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 special preparation required. Provide clinical history and undergo genetic counseling as recommended.

Method: Blood Draw

Step 2

Laboratory Analysis

A blood sample is drawn by a trained phlebotomist. For FTA card, a drop of blood is applied to the card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Discuss clinical history with a genetic counselor. No fasting or special preparation needed.
2
During the Test:Blood sample collection via venipuncture or FTA card. Minimal discomfort.
3
After the Test:Resume normal activities. Follow up for report collection and genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ETHE1 gene to confirm a diagnosis of ethylmalonic encephalopathy, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Follow kit instructions for FTA card collection
  • Label samples accurately with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for ethylmalonic encephalopathy is crucial for accurate diagnosis, management, 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
Collection MethodBlood Draw

Sample Stability

Blood samples: Store at 2-8°C for up to 48 hours
Extracted DNA: Stable at -20°C for long-term storage
FTA cards: Room temperature for several weeks
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect labeling or missing patient information

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the ETHE1 gene. A genetic counselor or specialist will explain the findings in the context of clinical symptoms.
📊

No pathogenic variants detected

No mutations in ETHE1 gene identified; ethylmalonic encephalopathy unlikely but clinical correlation needed.

📊

Pathogenic variant(s) detected

Confirmed diagnosis of ethylmalonic encephalopathy; genetic counseling and management recommended.

📊

Variant of uncertain significance (VUS)

Further testing and family studies may be required for clarification.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or neurologist if symptoms persist, for result interpretation, or if family planning is considered.

Limitations

  • ⚠May not detect all possible genetic variants, including deep intronic mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace comprehensive clinical evaluation
  • ⚠Limited to the ETHE1 gene; other causes of encephalopathy may not be identified

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Very low risk of infection or fainting
  • ●Emotional impact of genetic results; counseling available

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection or processing
  • ●Technical limitations in detecting all variant types

Frequently Asked Questions

What is the ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic Test?
It is a next-generation sequencing test that analyzes the ETHE1 gene to detect mutations causing ethylmalonic encephalopathy, a rare genetic disorder.
Who should consider this test?
Individuals with symptoms like developmental delay, seizures, muscle weakness, or a family history of the disorder should consider testing.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
How is the test performed?
A blood sample or DNA is collected and analyzed using next-generation sequencing to identify mutations in the ETHE1 gene.
Is fasting required for this test?
No, fasting is not required. You can eat and drink normally before sample collection.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How accurate is this test?
NGS is a highly accurate method for detecting genetic mutations, but results should be interpreted by a genetic specialist.
What if a variant of uncertain significance is found?
Additional testing or family studies may be recommended. Genetic counseling will help understand the implications.
Is the test covered by insurance?
Coverage varies by insurance provider. It is not typically covered under government schemes; check with your insurer.
Can this test diagnose other conditions?
No, this test specifically targets ethylmalonic encephalopathy via the ETHE1 gene. For other disorders, additional tests may be needed.
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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