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IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test

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IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test

Short Name: IDH1 Metaphyseal Chondromatosis NGS Test

Also known as: IDH1-related metaphyseal chondromatosis, D-2-hydroxyglutarate aciduria

IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate 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 TestPediatric🏠 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 IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate by identifying mutations in the IDH1 gene using NGS technology, enabling early intervention and management.

Test Code
2446
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 undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Sample sent to lab for NGS analysis; results available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Results delivered online; follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate by identifying mutations in the IDH1 gene using NGS technology, enabling early intervention and management.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"This genetic test is essential for early diagnosis and management of rare bone disorders in children, aiding in personalized treatment plans."

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 sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the IDH1 gene associated with metaphyseal chondromatosis.
Positive: Pathogenic variant detected, confirming diagnosis
Negative: No variant detected, but clinical correlation needed
Variant of uncertain significance: Requires further testing
⚠️ When to Consult a Doctor:

If symptoms such as bone deformities, joint pain, or growth issues persist or worsen, consult a geneticist or orthopedic specialist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Limited to IDH1 gene analysis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Sample contamination
  • ●Improper sample handling
  • ●Degraded DNA

Frequently Asked Questions

What is IDH1 gene metaphyseal chondromatosis?
It is a rare genetic disorder caused by mutations in the IDH1 gene, leading to bone deformities and increased urinary excretion of D-2-hydroxyglutarate.
What are the common symptoms?
Symptoms include short stature, bowed legs, flat feet, widened fingers, joint pain and stiffness, and difficulty walking, typically starting in childhood.
How is this condition diagnosed?
Diagnosis involves genetic testing, such as NGS, to detect IDH1 gene mutations, often supported by imaging tests like X-rays or MRIs.
What is the NGS Genetic Test?
NGS (Next Generation Sequencing) is a advanced DNA sequencing technology used to identify mutations in the IDH1 gene for accurate diagnosis.
What is the cost of the test in India?
The NGS Genetic Test for IDH1 gene metaphyseal chondromatosis costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is there a cure for this condition?
Currently, there is no cure; treatment focuses on managing symptoms through pain relief, physical therapy, and surgery.
Who should consider this test?
Individuals with symptoms like bone deformities, growth issues, or a family history of the disorder should consider testing.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the IDH1 gene, confirming the diagnosis of metaphyseal chondromatosis.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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

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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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