NPM1 Gene Mutation Analysis

Specimen Required

6cc EDTA Blood (2 CBC Vials)

Fasting Required

Purpose of the Test

The NPM1 gene mutation analysis is used to detect mutations in the NPM1 gene. Mutations in this gene have been linked to the development of various blood disorders, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Testing for NPM1 gene mutations can help in the diagnosis and management of these disorders.

When this test is required

The test is usually requested when a person is suspected of having AML or MDS. It may also be ordered to monitor the progress of treatment and to detect any relapse of the disease.

What the Test Detects

The NPM1 gene mutation analysis is a genetic test that looks for mutations in the NPM1 gene. The NPM1 gene provides instructions for making a protein that is involved in several cellular processes, including the regulation of cell growth and division. Mutations in the NPM1 gene have been linked to the development of various blood disorders.

Preparation for the Test

No special preparation is usually needed for this test.

Sample Requirements

The test requires a blood sample, which is usually drawn from a vein in the arm.

Additional Notes

It is important to note that a negative result does not rule out the possibility of AML or MDS. Other genetic mutations and factors may also be involved in the development of these conditions. The test should be interpreted in the context of other clinical and laboratory findings.

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