IDH2 Gene Selective Sequencing of Exon 4 NGS Genetic DNA Test
Comprehensive Introduction to IDH2 Genetic Testing
The IDH2 Gene Selective Sequencing of Exon 4 NGS Genetic DNA Test represents a breakthrough in precision oncology, offering targeted analysis of one of the most critical genetic regions associated with cancer development and progression. This advanced diagnostic tool utilizes Next-Generation Sequencing (NGS) technology to specifically examine exon 4 of the IDH2 gene, where the majority of clinically significant mutations occur. The importance of this test lies in its ability to provide crucial genetic information that directly influences treatment decisions, prognosis assessment, and personalized cancer care strategies.
Isocitrate dehydrogenase 2 (IDH2) is a metabolic enzyme that plays a vital role in cellular energy production and epigenetic regulation. When mutations occur in this gene, particularly in exon 4, they can lead to the production of an abnormal enzyme that contributes to cancer development by altering cellular metabolism and gene expression patterns. The identification of these mutations has become increasingly important in modern oncology practice, as they serve as biomarkers for targeted therapy selection and disease monitoring.
What the IDH2 Gene Test Measures and Detects
This specialized genetic test focuses exclusively on detecting mutations within exon 4 of the IDH2 gene using highly sensitive NGS technology. The test specifically identifies:
- Point mutations in codon R140 and R172 of exon 4
- Missense mutations that alter the enzyme’s catalytic activity
- Single nucleotide variants that affect protein function
- Genetic alterations associated with 2-hydroxyglutarate accumulation
- Mutations linked to specific cancer subtypes and treatment responses
The NGS methodology employed provides comprehensive coverage of the target region with high accuracy and sensitivity, ensuring reliable detection of even low-frequency mutations that might be missed by conventional sequencing methods.
Who Should Consider IDH2 Genetic Testing
This test is particularly recommended for individuals presenting with specific clinical scenarios and symptoms:
Clinical Indications
- Patients diagnosed with acute myeloid leukemia (AML), especially those with normal karyotype
- Individuals with glioma or other central nervous system tumors
- Patients with chondrosarcoma or other bone cancers
- Those with myelodysplastic syndromes progressing to AML
- Individuals with family history of IDH2-associated cancers
- Patients requiring treatment selection for targeted therapies
Symptoms and Clinical Presentations
- Unexplained fatigue, weakness, or bruising in leukemia cases
- Neurological symptoms in brain tumor patients
- Bone pain or swelling in sarcoma cases
- Abnormal blood counts or bone marrow findings
- Progressive disease despite standard treatments
Significant Benefits of IDH2 Genetic Testing
Undergoing IDH2 genetic testing provides numerous advantages for both patients and healthcare providers:
- Personalized Treatment Planning: Identifies eligibility for IDH2 inhibitor therapies like enasidenib
- Prognostic Information: Helps determine disease aggressiveness and expected outcomes
- Treatment Monitoring: Enables tracking of mutation status during therapy
- Clinical Trial Eligibility: Opens access to targeted therapy clinical trials
- Family Risk Assessment: Provides information about potential hereditary risks
- Cost-Effective Care: Avoids unnecessary treatments by targeting specific mutations
Understanding Your Test Results
Interpreting IDH2 genetic test results requires careful consideration of clinical context and genetic findings:
Possible Results and Their Meanings
- Positive for IDH2 Mutation: Indicates the presence of a clinically significant mutation that may guide targeted therapy selection and provide prognostic information
- Negative for IDH2 Mutation: Suggests absence of detectable mutations in the tested region, which may influence treatment decisions toward alternative approaches
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation and possible family studies
Clinical Implications
Positive results typically indicate eligibility for IDH2 inhibitor therapies and may influence prognosis in certain cancer types. Negative results help exclude specific targeted treatment options and may guide alternative therapeutic strategies. All results should be interpreted in consultation with a qualified oncologist and genetic counselor who can provide comprehensive clinical context and management recommendations.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | IDH2 Gene Selective Sequencing of Exon 4 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide, supported by our team of experienced genetic counselors and oncology specialists.
Pre-Test Requirements and Preparation
To ensure accurate and meaningful results, the following preparations are necessary:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss test implications and create family pedigree
- Informed consent process explaining benefits, limitations, and potential outcomes
- Coordination with treating oncologist for proper test interpretation
- Insurance pre-authorization when applicable
Take Action for Your Health Today
Don’t wait to get the critical genetic information that could transform your cancer treatment journey. The IDH2 Gene Selective Sequencing Test provides essential data for personalized medicine approaches that can significantly improve treatment outcomes. Our dedicated team is ready to assist you with scheduling, insurance questions, and result interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to book your IDH2 genetic test and take the first step toward precision cancer care. Our genetic counselors and oncology specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
