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OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic Test

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OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic Test

Short Name: OGDH Genetic Test

Also known as: OGDH deficiency, Alpha-ketoglutarate dehydrogenase deficiency genetic test

OGDH Gene Alpha-ketoglutarate dehydrogenase 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.

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

The purpose of this test is to diagnose OGDH gene mutations causing alpha-ketoglutarate dehydrogenase deficiency, confirm clinical suspicion, guide treatment strategies, and facilitate genetic counseling for families.

Test Code
1880
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

Provide clinical history and family pedigree as part of genetic counseling session.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using FTA card for one drop blood.

Step 3

Report Delivery

Apply pressure to puncture site; store sample at ambient temperature for transport.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss risks and benefits; provide informed consent.
2
During the Test:Sample collection and processing in accredited lab; no discomfort beyond blood draw.
3
After the Test:Receive report in 3-4 weeks; follow-up with genetic counselor or physician for next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose OGDH gene mutations causing alpha-ketoglutarate dehydrogenase deficiency, confirm clinical suspicion, guide treatment strategies, and facilitate genetic counseling for families.

How to Prepare

  • Fasting not required
  • Use EDTA tube for blood
  • Label sample correctly with patient details

Doctor's Notes

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

"This test is crucial for diagnosing rare metabolic disorders and guiding family planning and genetic counseling for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: Stable at room temperature for 48 hours
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Incorrect labeling or missing consent

Understanding Your Results

Results indicate presence or absence of pathogenic variants in the OGDH gene. Genetic counseling is recommended for proper understanding.
📊

Pathogenic variant detected

Confirms diagnosis of OGDH deficiency; initiate metabolic management and family screening.

📊

No pathogenic variant detected

OGDH deficiency unlikely; consider other metabolic or genetic causes.

📊

Variant of uncertain significance

Further testing and family studies may be needed; genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist immediately if symptoms like seizures or developmental delay are present, or upon receiving abnormal test results.

Limitations

  • ⚠Does not detect all types of mutations (e.g., large deletions)
  • ⚠Results require correlation with clinical and biochemical findings
  • ⚠Genetic counseling is essential for interpretation

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Sample contamination
  • ●Inadequate DNA quantity or quality
  • ●Recent blood transfusion affecting DNA

Compare With Similar Tests

TestOGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic Test
ComparisonOGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic Test

Frequently Asked Questions

What is OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency?
It is a rare autosomal recessive genetic disorder affecting the Krebs cycle due to OGDH gene mutations, leading to symptoms like developmental delay, seizures, and metabolic acidosis.
Why is this test recommended?
Recommended for individuals with symptoms of metabolic disorders or family history to confirm diagnosis, guide treatment, and assist in genetic counseling.
How is the test performed?
Using next-generation sequencing (NGS) technology to analyze the OGDH gene from a blood or extracted DNA sample with high accuracy.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across numerous cities in India.
Is fasting required before the test?
No, fasting is not required for this genetic test. A simple blood draw or FTA card sample is sufficient.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
What samples are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted for this NGS genetic test.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous Indian cities by trained phlebotomists.
What do the results mean?
Results indicate presence or absence of pathogenic variants in the OGDH gene. Genetic counseling is essential for proper interpretation and next steps.
Are there any risks associated with the test?
Risks are minimal and similar to a standard blood draw, with potential psychological impact addressed through pre- and post-test genetic counseling.
Is the test covered by insurance?
Coverage varies by insurer and policy. Government schemes like PMJAY, CGHS, and ECHS may not cover it. Check with your provider for details.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor; prenatal diagnosis may be possible with appropriate samples such as chorionic villi or amniotic fluid, along with proper 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.

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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