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IDH1 (R132H) point mutation

What is an idh1 (r132h) point mutation test?

The IDH1 (R132H) point mutation test is a diagnostic test used to detect a specific mutation in the isocitrate dehydrogenase 1 (IDH1) gene. This gene is responsible for producing an enzyme that plays a role in cellular metabolism. The R132H mutation occurs when a single nucleotide in the IDH1 gene is replaced, resulting in a change in the amino acid sequence of the IDH1 protein.

The test is usually conducted on a sample of tumor tissue, as the IDH1 mutation is commonly found in certain types of cancer, such as gliomas and acute myeloid leukemia. Detection of the mutation can aid in the diagnosis of these cancers and can also be used to monitor disease progression and treatment response.

The IDH1 (R132H) point mutation test is typically performed using DNA sequencing techniques. The results of the test can help guide treatment decisions and provide important prognostic information for patients with cancer.

How is an idh1 (r132h) point mutation test performed?

The IDH1 (R132H) point mutation test is usually performed on a tissue sample, obtained through a biopsy or surgery. The sample is sent to a specialized laboratory where the DNA is extracted and analyzed for the specific mutation. The test involves amplifying the IDH1 gene region containing the R132H mutation with polymerase chain reaction (PCR) and then sequencing the amplified product. The sequencing results will confirm the presence of the mutation. This test is important in the diagnosis and prognosis of certain types of cancer, such as gliomas and acute myeloid leukemia, as the IDH1(R132H) mutation is often associated with these diseases.

What can an idh1 (r132h) point mutation test detect?

An idh1 (r132h) point mutation test can detect a specific mutation in the idh1 gene, which is associated with various types of cancer, including gliomas and acute myeloid leukemia. This test will help to identify the presence of this specific mutation in a patient's DNA, which can help doctors to determine the most appropriate treatment plan for the individual. Additionally, this test may be used to monitor the effectiveness of treatment over time and to assess the risk of cancer recurrence. Ultimately, the idh1 (r132h) point mutation test is a valuable tool for cancer diagnosis and management.

What type of cancers is an idh1 (r132h) point mutation test used to diagnose?

The IDH1 (R132H) point mutation test is primarily used to diagnose brain tumors, particularly gliomas. However, this test can also be used for the diagnosis of acute myeloid leukemia (AML) and chondrosarcoma, which are rare types of cancer. The IDH1 (R132H) mutation is found in around 70% of low-grade gliomas and secondary glioblastomas. This test can help in identifying the mutation in the IDH1 gene, which is important for the diagnosis, prognosis, and treatment of these types of cancer.

What specimens are commonly used for an idh1 (r132h) point mutation test?

For an IDH1 (R132H) point mutation test, formalin-fixed paraffin-embedded (FFPE) tissue specimens are commonly used. These specimens can be obtained through biopsy or surgical resection of tumors. FFPE specimens are commonly used because they provide a stable source of DNA that can be analyzed for genetic mutations. Blood specimens may also be used, but they are less common as the IDH1 (R132H) mutation is usually found in tumor tissue. The IDH1 (R132H) point mutation test is often used in the diagnosis and monitoring of certain types of brain tumors, such as gliomas and astrocytomas.

What are the advantages of an idh1 (r132h) point mutation test over other tests?

An IDH1 (R132H) point mutation test is a genetic test used to detect a specific mutation in the IDH1 gene. This mutation is commonly found in certain types of cancer, such as gliomas, and has been associated with better treatment outcomes. Here are some advantages of an IDH1 (R132H) point mutation test over other tests:

  1. More accurate diagnosis: An IDH1 (R132H) point mutation test provides a more accurate diagnosis of certain types of cancer, such as gliomas. This test can help doctors to determine the most effective treatment plan for the patient.
  2. Better prognosis: The IDH1 (R132H) mutation has been associated with a better prognosis for patients with certain types of cancer. Knowing if a patient has this mutation can help doctors to determine the best course of treatment and provide more accurate information about the patient's prognosis.
  3. Targeted treatment: The IDH1 (R132H) mutation has been shown to respond well to targeted therapies, such as IDH inhibitors. Knowing if a patient has this mutation can help doctors to determine if these therapies would be effective for the patient.
  4. Non-invasive testing: IDH1 (R132H) point mutation testing can be done on a biopsy or blood sample, making it a non-invasive testing option for patients.

Overall, IDH1 (R132H) point mutation testing provides a more accurate diagnosis, better prognosis, and moreThe IDH1 (R132H) point mutation test is a powerful tool in the diagnosis and treatment of certain types of cancer, particularly gliomas. Its many advantages over other tests make it a popular choice for doctors and patients alike. If you or a loved one has been diagnosed with a glioma or other cancer, talk to your doctor about the benefits of IDH1 (R132H) point mutation testing and how it can help guide your treatment plan.

Are there any specific requirements for getting an IDH1 (R132H) point mutation test in ?

Yes, there are specific requirements for getting an IDH1 (R132H) point mutation test in . Firstly, the test can only be performed by a licensed medical laboratory or clinic. Secondly, a doctor's prescription or referral is required in order to get the test done. The patient may also need to provide their medical history and any relevant diagnostic information. Additionally, there may be certain pre-test instructions such as fasting or avoiding certain medications. It is recommended that individuals consult with their healthcare provider to determine if the IDH1 (R132H) test is appropriate and to obtain the necessary requirements for testing in .

Are there any special precautions to be taken before getting an IDH1 (R132H) point mutation test in ?

Before getting an IDH1 (R132H) point mutation test in , it is important to consult with a qualified medical professional who can guide you through the process and advise on any necessary precautions. It is also advisable to research and select a reputable laboratory or diagnostic center that has experience with this type of test.

Some possible precautions to consider may include fasting before the test, as certain medications and foods can interfere with the accuracy of the results. It is also important to disclose any relevant medical history or conditions to the healthcare provider, as this may affect the interpretation of the test results. Additionally, it may be helpful to prepare emotionally for the potential results and to discuss any concerns or questions with a counselor or healthcare provider beforehand.

Are there any laboratories in that offer IDH1 (R132H) point mutation tests?

Yes, there are several laboratories in that offer IDH1 (R132H) point mutation tests. CNC PATH LABS use advanced molecular testing techniques to detect the IDH1 (R132H) point mutation, which is commonly found in several types of cancer. Patients can get their samples tested at these labs and receive accurate results that can help doctors in diagnosing and treating cancer. It is recommended to consult with a healthcare professional before getting any diagnostic tests done.

Description- This test distinguishes primary from secondary glioblastoma multiform (GBM). IDH1 mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. This test allows the highly sensitive and specific demonstration of various tumors (such as astrocytoma from primary glioblastomas or diffuse astrocytoma grade II from pilocytic astrocytoma or ependymoma)

Methodology: Immunohistochemistry

 

TAT: 3-5 days

Specimen Preparation
Collect - tissue /or cell
Specimen Preparation- formal fix (10 % neutral buffered formalin) and paraffin enter specimen (FFPE specimens square measure needed). shield paraffin block or slides from uncontrolled heat. Transport tissue block or five unstained (3-micron thick sections), charged slides during a tissue transport kit. (Min: a pair of slides). If causing precut slides, don't over heat it.
Storage/Transport Temperature- At temperature or cold. Transport it in cooled instrumentation throughout weather.
Unacceptable conditions- i) Specimens submitted with non-marked/tagged tissue sort square measure rejected.
ii) Depleted specimens aren't tested.
Stability- i) Ambient: Indefinitely;
ii) Refrigerated: Indefinitely;
iii) Frozen: Unacceptable

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