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DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test

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DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test

Also known as: Pyruvate dehydrogenase E2 deficiency genetic test

DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood/Extracted DNA/Blood on FTA Card samples. Results in 3-4 weeks from sample collection.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To identify mutations in the DLAT gene associated with Pyruvate dehydrogenase E2 deficiency, aiding in diagnosis, genetic counseling, and management.

Test Code
2228
Price
₹20,000
Sample Type
Blood/Extracted DNA/Blood on FTA Card
Result Time
3-4 weeks from sample collection.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history and genetic counseling recommended.

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample drawn from vein or blood spot on FTA card.

Step 3

Report Delivery

Sample sent to laboratory for analysis.

Timeline: 3-4 weeks from sample collection.

Patient Instructions

1
Before the Test:Genetic counseling and informed consent.
2
During the Test:Non-invasive blood draw.
3
After the Test:Wait for report and follow-up consultation.

About This Test

Who Should Get This Test

To identify mutations in the DLAT gene associated with Pyruvate dehydrogenase E2 deficiency, aiding in diagnosis, genetic counseling, and management.

How to Prepare

  • Ensure proper identification of sample
  • Follow aseptic technique
  • Label sample correctly

Doctor's Notes

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

"Early genetic testing can help in accurate diagnosis and management of this rare metabolic disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood/Extracted DNA/Blood on FTA Card
Sample VolumeVaries based on sample type
ContainerEDTA Tube or FTA Card
Collection MethodBlood Draw

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the DLAT gene.
📊

No pathogenic variants

Negative for DLAT gene mutations, but clinical correlation needed

📊

Pathogenic variant detected

Positive for DLAT gene mutation, indicating Pyruvate dehydrogenase E2 deficiency

⚠️ When to Consult a Doctor:

If results are positive or if symptoms persist, consult a geneticist or neurologist for further management.

Limitations

  • ⚠May not detect all mutations due to technical limits
  • ⚠Results require clinical correlation
  • ⚠Not used for prenatal diagnosis without additional tests

Risks & Considerations

  • ●Minimal risks from blood draw
  • ●Psychological impact of results

Interfering Factors

  • ●Poor sample quality
  • ●DNA contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

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ComparisonDLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test

Frequently Asked Questions

What is DLAT gene Pyruvate dehydrogenase E2 deficiency?
It is a rare genetic disorder caused by mutations in the DLAT gene, affecting carbohydrate metabolism and energy production.
What are the common symptoms of this disorder?
Symptoms include developmental delays, seizures, muscle weakness, and various neurological problems.
How is DLAT gene Pyruvate dehydrogenase E2 deficiency diagnosed?
Diagnosis is typically confirmed through genetic testing, such as this NGS Genetic Test, which identifies mutations in the DLAT gene.
What is the cost of the DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test in India?
The cost is INR 20,000, with free home sample collection available in many cities.
Is home sample collection available for this test?
Yes, we offer free home sample collection for online bookings across India.
How long does it take to receive the test results?
Results are typically available in 3 to 4 weeks from the sample collection date.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider getting this genetic test?
Individuals with symptoms like developmental delays, seizures, muscle weakness, or a family history of the disorder should consider testing.
What treatment options are available for this condition?
Treatment may include medications to manage symptoms, physical therapy, and supportive measures, as advised by a healthcare professional.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is best to check with your insurance provider or scheme administrator.
How accurate is the NGS Genetic Test for this disorder?
The test is highly accurate for detecting mutations in the DLAT gene, but results should be interpreted in clinical context by a geneticist.
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.

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✓ 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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