IDH1 and IDH2 Mutation Analysis Test
Cost: AED 2400.0
Symptoms, Diagnosis, and Test Details
The IDH1 and IDH2 Mutation Analysis Test is a genetic test that detects specific mutations in the IDH1 and IDH2 genes. These mutations have been found in various types of cancer, including gliomas, acute myeloid leukemia (AML), and chondrosarcomas.
Mutations in the IDH1 and IDH2 genes result in a gain of function, leading to the production of a mutant enzyme with altered activity. This mutant enzyme produces an oncometabolite called 2-hydroxyglutarate (2-HG), which can interfere with normal cellular processes and contribute to tumorigenesis.
The IDH1 mutation is most commonly found in gliomas, particularly low-grade gliomas and secondary glioblastomas. This mutation is characterized by a single amino acid substitution at position 132, where arginine is replaced by histidine (R132H) in the IDH1 protein.
The IDH2 mutation is less common than the IDH1 mutation and is often found in AML and chondrosarcomas. The most frequent mutation in IDH2 is at position 140, where arginine is replaced by cysteine (R140Q) or histidine (R140H) in the IDH2 protein.
The IDH1 and IDH2 Mutation Analysis Test is performed using molecular techniques such as DNA sequencing or targeted mutation-specific assays. These tests can detect the presence of specific mutations in the IDH1 and IDH2 genes, which can help in diagnosis, prognosis, and treatment decision-making for patients with cancer.
Test Components and Price
- Paraffin embedded tissue blocks
The cost of the IDH1 and IDH2 Mutation Analysis Test is AED 2400.0.
Sample Condition and Report Delivery
- Sample Condition: Tumor tissue
- Report Delivery: 7-8 days
Test Method and Type
- Method: Sanger Sequencing
- Test Type: Genetics
Doctor and Test Department
- Doctor: Gynecologist
- Test Department: DNA Labs UAE
Pre Test Information
IDH1 & IDH2 Mutation Analysis can be done with a Doctor’s prescription. However, the prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Treatment Options
Targeted therapies that specifically inhibit mutant IDH1 and IDH2 enzymes have been developed and approved for the treatment of certain types of cancer, such as gliomas and AML. These therapies aim to block the production of 2-HG and restore normal cellular function.
Conclusion
In summary, the IDH1 and IDH2 Mutation Analysis Test is a molecular test that detects specific mutations in the IDH1 and IDH2 genes. These mutations are associated with the production of an oncometabolite called 2-HG and are found in various types of cancer. Mutation analysis can help in diagnosis, prognosis, and treatment decision-making for patients with these cancers.
| Test Name | IDH1 and IDH2 Mutation Analysis Test |
|---|---|
| Components | Paraffin embedded tissue blocks |
| Price | 2400.0 AED |
| Sample Condition | Tumor tissue |
| Report Delivery | 7-8 days |
| Method | Sanger Sequencing |
| Test type | Genetics |
| Doctor | Gynecologist |
| Test Department: | |
| Pre Test Information | IDH1 & IDH2 Mutation Analysis can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
| Test Details |
IDH1 and IDH2 are two genes that code for enzymes called isocitrate dehydrogenase 1 and 2, respectively. Mutations in these genes have been found in various types of cancer, including gliomas, acute myeloid leukemia (AML), and chondrosarcomas. IDH1 and IDH2 mutations result in a gain of function, leading to the production of a mutant enzyme with altered activity. The mutant enzymes produce an oncometabolite called 2-hydroxyglutarate (2-HG), which can interfere with normal cellular processes and contribute to tumorigenesis. IDH1 mutations are most commonly found in gliomas, particularly low-grade gliomas and secondary glioblastomas. These mutations are characterized by a single amino acid substitution at position 132, where arginine is replaced by histidine (R132H) in the IDH1 protein. IDH2 mutations are less common than IDH1 mutations and are often found in AML and chondrosarcomas. The most frequent mutation in IDH2 is at position 140, where arginine is replaced by cysteine (R140Q) or histidine (R140H) in the IDH2 protein. Mutation analysis of IDH1 and IDH2 is performed using molecular techniques such as DNA sequencing or targeted mutation-specific assays. These tests can detect the presence of specific mutations in the IDH1 and IDH2 genes, which can help in diagnosis, prognosis, and treatment decision-making for patients with cancer. Targeted therapies that specifically inhibit mutant IDH1 and IDH2 enzymes have been developed and approved for the treatment of certain types of cancer, such as gliomas and AML. These therapies aim to block the production of 2-HG and restore normal cellular function. In summary, IDH1 and IDH2 mutation analysis is a molecular test that detects specific mutations in the IDH1 and IDH2 genes. These mutations are associated with the production of an oncometabolite called 2-HG and are found in various types of cancer. Mutation analysis can help in diagnosis, prognosis, and treatment decision-making for patients with these cancers. |
