IDH1 Gene Metaphyseal Chondromatosis with Increased Urinary Excretion of D-2-Hydroxyglutarate NGS Genetic DNA Test
Introduction
The IDH1 Gene Metaphyseal Chondromatosis with Increased Urinary Excretion of D-2-Hydroxyglutarate NGS Genetic DNA Test is a cutting-edge diagnostic tool used to identify genetic predispositions to various osteology disorders. This test employs Next-Generation Sequencing (NGS) technology to analyze the IDH1 gene, which plays a critical role in cellular metabolism and can impact bone health.
What the Test Measures
This test specifically measures mutations in the IDH1 gene and evaluates the levels of D-2-hydroxyglutarate in urine, which can indicate metabolic abnormalities associated with chondromatosis. By identifying these genetic markers, healthcare providers can better understand an individual’s risk for developing related conditions.
Who Should Consider This Test
Individuals with a family history of metaphyseal chondromatosis or those exhibiting symptoms such as bone pain, swelling, or abnormal growth patterns should consider this test. Additionally, those with risk factors such as genetic predispositions or previous diagnoses of related disorders may benefit from this assessment.
Benefits of Taking the Test
- Identifies genetic risks early, allowing for proactive management.
- Guides treatment decisions based on genetic findings.
- Provides insights into family health history, aiding in genetic counseling.
- Utilizes advanced NGS technology for accurate and reliable results.
Understanding Your Results
Your test results will provide information on whether mutations in the IDH1 gene are present and the levels of D-2-hydroxyglutarate in your urine. A genetic counselor will help interpret these results, discussing their implications for your health and any necessary next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| IDH1 Gene Metaphyseal Chondromatosis NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Turnaround Time: 3 to 4 Weeks
Pre-Test Instructions
Before undergoing the IDH1 Gene Metaphyseal Chondromatosis NGS Genetic DNA Test, it is essential to have a clinical history assessment and a genetic counseling session to create a pedigree chart of family members affected by this condition.
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. To book the test or for more information, please call or WhatsApp us at +254711564616.
