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CALR Mutation Detection in Kolapakkam, Chennai

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  • CALR Mutation Detection

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About

blood sample
SAMPLE TYPE

BLOOD

Gender
GENDER

Both

users
AGE GROUP

7 years & above

The CALR mutation detection test is a diagnostic test that is primarily used to identify mutations in the CALR gene, a gene that is responsible for making a protein called calreticulin.  This protein ensures the correct folding of new proteins in the body and maintains appropriate calcium levels in cells. However, CALR gene is also associated with certain blood disorders such as myeloproliferative neoplasms (MPNs).

MPNs are a group of disorders in which the bone marrow produces too many blood cells, leading to an increased risk of blood clots, bleeding, and other complications. CALR mutations are found in a significant proportion of MPN cases, particularly those that do not have mutations in the JAK2 or MPL genes. The CALR mutation detection test uses molecular techniques to detect specific mutations in the CALR gene, which can help to diagnose MPNs and inform treatment decisions.

In addition to diagnosing MPNs, the CALR mutation detection test is also helpful in providing information about a patient’s prognosis. Your healthcare provider will assist you with appropriate CALR mutation treatment based on the results. A positive result is a common indication of myeloproliferative neoplasm (MPN). Your healthcare provider may even advise other tests like bone marrow biopsy to determine the type of MPN and its severity.

The CALR mutation is commonly found between 20-25% of people with essential thrombocythemia (ET) and the same division of people with primary myelofibrosis (PMF). It is also rarely found in people with chronic myelomonocytic leukaemia (CMML), myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML), and chronic myeloid leukaemia (CML).

As a general rule, you must get yourself tested for CALR mutation detection when you detect abnormal test results on a Complete Blood Count (CBC). It may also be prescribed if your healthcare provider suspects that you have a bone marrow disorder. At Apollo 24|7, you can book the CALR mutation detection test and get your sample collected. To make it easier for you to understand, here are some reasons why you must opt for this CALR mutation detection test:

If you have significantly increased haemoglobin levels

  • Increased levels of red blood cells
  • Clinical signs and symptoms suggest an MPN
     

faqFrequently Asked Questions (FAQs)

Is there any preparation needed for the test?

No, the CALR mutation detection test does not require any preparation before the scheduled time of the test.

When is the CALR mutation detection test needed?

The test is recommended along with other tests when your healthcare provider suspects a possible MPN such as thrombocythemia or primary myelofibrosis. The test is typically done after the suspected person has tested negative for a mutation of the JAK2 and BCR-ABL1 genes.

Are there any symptoms of CALR mutation detection?

Usually, people with MPNs may have no symptoms or relatively mild ones. These symptoms or signs can be present for years before being diagnosed as an MPN. A healthcare provider may prescribe testing when a complete blood count (CBC) results are abnormal and several other signs and symptoms. These symptoms can be abdominal pain, excessive clotting, bleeding or easy bruising, fatigue and weakness, headache, dizziness, and vision problems.

What do the test results mean?

A positive result of the CALR mutation detection denotes that a person likely has an MPN, especially thrombocythemia or primary myelofibrosis. Your healthcare provider may prescribe another test like a bone marrow biopsy to determine the type of MPN in the body.

Is the CALR mutation hereditary?

No, the CALR mutation is not hereditary. It is acquired during cell division. The JAK2 mutations are more commonly found in more than 95% of polycythemia vera cases. They are also associated with 50-60% of essential thrombocythemia and primary myelofibrosis cases.

Is there anything else I should know?

The CALR mutation treatment includes drugs or medicines called targeted therapies. These are designed specifically to prevent abnormal proteins and have promising results. It is a developing and safe area of study that can help treat this disorder substantially.

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The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results