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PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test

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PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test

Short Name: PDHA1 Gene Test

Also known as: PDHA1 Deficiency, Pyruvate Dehydrogenase Complex Deficiency

PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

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 PDHA1 gene causing Pyruvate dehydrogenase E1-alpha deficiency for accurate diagnosis, family planning, and management of metabolic disorders.

Test Code
2226
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
NGS Technology
Step 1

Sample Collection

Obtain clinical history and conduct a genetic counseling session to draw a pedigree chart of affected family members. Ensure proper patient consent.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Collect blood sample via venipuncture in an EDTA tube or use a FTA card with one drop of blood. Label samples correctly with patient details.

Step 3

Report Delivery

Store samples at ambient room temperature and transport to the laboratory promptly for processing.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical history review are recommended to assess family risk and test necessity.
2
During the Test:Sample DNA is extracted and analyzed using NGS technology to sequence the PDHA1 gene and identify mutations.
3
After the Test:Results are reviewed by a geneticist, and a clinical report is generated. Genetic counseling helps in understanding findings.

About This Test

Who Should Get This Test

To identify mutations in the PDHA1 gene causing Pyruvate dehydrogenase E1-alpha deficiency for accurate diagnosis, family planning, and management of metabolic disorders.

How to Prepare

  • Collect blood in EDTA tube or apply one drop to FTA card
  • Ensure proper labeling with patient name, date, and test details
  • Avoid hemolysis during collection
  • Store and transport at room temperature

Doctor's Notes

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

"Early genetic testing for PDHA1 deficiency can facilitate timely diagnosis and personalized management, potentially improving outcomes for affected individuals."

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 requirements
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood in EDTA tube: stable for 48 hours at room temperature
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Incorrect sample type (e.g., serum instead of whole blood)
  • Sample hemolysis or contamination
  • Insufficient sample volume
  • Mislabeled or unidentified samples

Understanding Your Results

Results from the PDHA1 Gene NGS Genetic Test are interpreted based on the presence or absence of pathogenic mutations in the PDHA1 gene. Genetic counseling is recommended to understand the implications.
📊

Positive - Pathogenic mutation detected

Confirms diagnosis of Pyruvate dehydrogenase E1-alpha deficiency. Indicates affected status and guides management.

📊

Negative - No pathogenic mutation detected

No disease-causing variants found, but clinical correlation is advised if symptoms persist.

📊

Variant of uncertain significance (VUS)

Genetic variation identified with unclear clinical impact. Further testing and counseling recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if experiencing symptoms such as developmental delays, seizures, muscle weakness, or if there is a family history of Pyruvate dehydrogenase E1-alpha deficiency or related metabolic disorders.

Limitations

  • ⚠May not detect all genetic variants due to technical limitations
  • ⚠Results may have uncertain significance, requiring further investigation
  • ⚠Does not rule out other genetic or metabolic disorders

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of genetic results, such as anxiety
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample
  • ●Inadequate sample volume

Compare With Similar Tests

TestPDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test
ComparisonPDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test

Frequently Asked Questions

What is PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency?
It is a rare genetic disorder caused by mutations in the PDHA1 gene, leading to impaired energy metabolism due to deficiency in the pyruvate dehydrogenase complex.
What are the common symptoms of this disorder?
Symptoms include developmental delay, intellectual disability, seizures, ataxia, muscle weakness, low muscle tone, and vision or hearing problems.
How is the disorder diagnosed?
Diagnosis is typically through genetic testing, such as NGS (Next-Generation Sequencing), to identify mutations in the PDHA1 gene.
What is NGS Genetic Testing?
NGS, or Next-Generation Sequencing, is a advanced technology that allows for the analysis of multiple genes simultaneously to detect genetic mutations efficiently.
What is the cost of the test in India?
The cost of the PDHA1 Gene NGS Genetic Test in India is approximately INR 20000, though it may vary by testing facility.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
What sample types are accepted for this test?
Accepted samples include 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.
What should I do if I have a family history of this disorder?
Consult a healthcare provider or genetic counselor for personalized advice on testing and family planning.
Can the test be done for children?
Yes, the test can be performed on individuals of all ages, including children, based on clinical indications.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting mutations in the PDHA1 gene, but results should be interpreted in conjunction with clinical findings and genetic counseling.
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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