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PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic Test

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PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic Test

Short Name: PDHB Gene NGS Test

Also known as: PDHB deficiency, Pyruvate dehydrogenase E1-beta deficiency

PDHB Gene Pyruvate dehydrogenase E1-beta deficiency 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 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 pathogenic mutations in the PDHB gene for accurate diagnosis of pyruvate dehydrogenase E1-beta deficiency, aiding in clinical management, genetic counseling, and family planning.

Test Code
2227
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 clinical history and family pedigree during genetic counseling.

Method: Venipuncture or FTA Card spot collection

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist via venipuncture or FTA Card spot collection.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample will be transported to the lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to assess risk and draw pedigree chart. Provide informed consent.
2
During the Test:Sample collection (blood or DNA) and processing using NGS technology.
3
After the Test:Analysis and reporting. Genetic counseling to discuss results and implications.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the PDHB gene for accurate diagnosis of pyruvate dehydrogenase E1-beta deficiency, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper labeling of sample
  • Transport at room temperature
  • Avoid hemolysis during collection

Doctor's Notes

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

"Early genetic testing for PDHB deficiency is crucial for accurate diagnosis, management, and family counseling to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card spot collection

Sample Stability

Room Temperature24 hours
Refrigerated72 hours
FrozenLong-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PDHB gene. Interpretation should be done in conjunction with clinical symptoms and family history.
Normal: No pathogenic variants detected
Positive: Pathogenic variant detected, consistent with PDHB deficiency
Variant of Uncertain Significance (VUS): Further testing or family studies recommended
Carrier: Heterozygous variant, may not show symptoms but can pass to offspring
⚠️ When to Consult a Doctor:

If you or your child exhibits symptoms such as developmental delay, seizures, or low muscle tone, consult a geneticist or healthcare provider for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Results require clinical correlation
  • ⚠Variant of uncertain significance may require further testing

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of genetic diagnosis
  • ●Potential for uncertain results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolysis in blood sample

Compare With Similar Tests

TestPDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic TestPDHA1 Gene TestLactic Acid Test
ComparisonPDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic Test

Frequently Asked Questions

What is PDHB Gene Pyruvate dehydrogenase E1-beta deficiency?
It is a rare genetic disorder caused by mutations in the PDHB gene, affecting the pyruvate dehydrogenase complex and impairing energy metabolism.
Who should consider getting this test?
Individuals with symptoms like developmental delay, seizures, hypotonia, or a family history of the condition.
What sample is required for the test?
Blood, extracted DNA, or a blood spot on an FTA Card.
How is the test performed?
Using next-generation sequencing (NGS) to analyze the PDHB gene for mutations.
What is the cost of the test?
INR 20000, which includes home collection, analysis, and reporting.
How long does it take to get results?
3 to 4 weeks from sample collection.
Is genetic counseling necessary?
Yes, it is recommended before and after testing to understand results and implications.
What do the test results mean?
Results can be normal, positive for pathogenic variants, or show variants of uncertain significance, requiring clinical correlation.
Is the test covered by insurance?
Coverage depends on your insurance policy; it is generally not covered under government schemes without prior approval.
Can the test be done at home?
Yes, free home sample collection is available in many cities across India.
How accurate is the test?
NGS is highly accurate for detecting point mutations and small indels, but may not detect all mutation types.
What should I do if the test is positive?
Consult a geneticist for management options, family counseling, and potential treatment strategies.
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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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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