Skip to main content
DNA Labs India

IDH2 Gene D-2-hydroxyglutaric aciduria type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

IDH2 Gene D-2-hydroxyglutaric aciduria type 2 NGS Genetic Test

Short Name: IDH2 D-2-HGA Type 2 NGS Test

Also known as: D-2-HGA Type 2 Genetic Test, IDH2 Mutation Analysis

IDH2 Gene D-2-hydroxyglutaric aciduria type 2 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose D-2-hydroxyglutaric aciduria type 2 by detecting mutations in the IDH2 gene using Next Generation Sequencing (NGS) technology.

Test Code
4663
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss family history and test implications.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample as per instructions.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under stable conditions for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling to assess family history, symptoms, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, genetic counseling for result interpretation, and discussion of management options.

About This Test

Who Should Get This Test

To diagnose D-2-hydroxyglutaric aciduria type 2 by detecting mutations in the IDH2 gene using Next Generation Sequencing (NGS) technology.

How to Prepare

  • Ensure proper sample labeling
  • Avoid hemolysis in blood samples
  • Follow FTA card instructions if used

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing D-2-HGA type 2, enabling personalized treatment and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for several days at 4°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the IDH2 gene, which are associated with D-2-hydroxyglutaric aciduria type 2.
Positive Result: Pathogenic mutation detected, confirming diagnosis of D-2-HGA type 2.
Negative Result: No pathogenic mutation detected; consider other differential diagnoses.
Variant of Uncertain Significance (VUS): Further testing and clinical correlation recommended.
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms persist, worsen, or if there is a family history of metabolic disorders.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Results may have psychological implications

Risks & Considerations

  • Minimal risk from blood draw (e.g., bruising, infection)
  • Psychological impact of genetic results
  • Potential for uncertain results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Improper sample handling

Compare With Similar Tests

TestIDH2 Gene D-2-hydroxyglutaric aciduria type 2 NGS Genetic TestIDH1 Gene Mutation TestWhole Exome Sequencing
ComparisonIDH2 Gene D-2-hydroxyglutaric aciduria type 2 NGS Genetic Test

Frequently Asked Questions

What is D-2-hydroxyglutaric aciduria type 2?
D-2-HGA type 2 is a rare genetic disorder caused by mutations in the IDH2 gene, leading to accumulation of D-2-hydroxyglutaric acid and affecting brain development.
What causes D-2-HGA type 2?
It is caused by mutations in the IDH2 gene, which is inherited in an autosomal dominant pattern.
What are the common symptoms of D-2-HGA type 2?
Symptoms include seizures, developmental delay, intellectual disability, abnormal muscle tone, coordination issues, speech difficulties, macrocephaly, and vision problems.
How is D-2-HGA type 2 diagnosed?
Diagnosis is confirmed through genetic testing, specifically the IDH2 Gene NGS Genetic Test, which detects mutations in the IDH2 gene.
What is the IDH2 Gene NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the IDH2 gene for mutations associated with D-2-HGA type 2.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate and reliable for detecting genetic mutations, with sensitivity and specificity over 99% for known variants.
What sample is required for the test?
The test can be performed using blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test in India?
The cost is INR 20,000, which includes sample collection, analysis, and report generation.
Is the test covered by insurance?
This test may not be covered by insurance; it is advisable to check with your insurance provider for specific coverage details.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do after receiving the test results?
Consult a geneticist or healthcare professional for interpretation, genetic counseling, and to discuss management and treatment options.
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.

Related Tests

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.