BRAF V600E Mutation Analysis, Hairy Cell Leukaemia

This test detects the presence of the BRAF V600E mutation, a genetic change linked to hairy cell leukaemia. Identifying this mutation is crucial in confirming a diagnosis of hairy cell leukaemia and guiding treatment decisions for this blood cancer.

This test is done primarily to:

• Confirm the diagnosis of hairy cell leukaemia
• Determine the appropriate treatment plan for hairy cell leukaemia
• Assess the response to treatment in patients with hairy cell leukaemia

This test is recommended:

• When hairy cell leukaemia is suspected based on symptoms
• As part of the diagnostic workup for patients with abnormal blood counts
• To monitor response to treatment in patients already diagnosed with hairy cell leukaemia

• Abnormal results may confirm a diagnosis of hairy cell leukaemia.
• Discuss any abnormal findings with your doctor for further evaluation and treatment planning.

During the test:

• A blood sample is collected for analysis.
• The test involves looking for specific genetic changes associated with hairy cell leukaemia using advanced sequencing techniques.
• The procedure is quick and usually painless.

Before the test:

• No specific preparations are needed.
• Inform your doctor about any medications you are taking.
• Follow any instructions provided by your healthcare provider for a smooth testing experience.

Consult your healthcare provider for specific requirements.

Other tests that may be ordered alongside include:

• Complete Blood Count (CBC): To assess levels of different blood cells.
• Bone Marrow Biopsy: To further evaluate bone marrow involvement.
• Flow Cytometry: To identify specific markers on the surface of blood cells related to leukaemia.

BRAF V600E Genetic Testing

Hairy cell leukaemia is a rare type of chronic cancer of the blood and bone marrow. This rare type of leukemia gets worse slowly or does not get worse at all. The disease is called hairy cell leukemia because the leukemia cells look "hairy" when viewed under a microscope. It typically leads to low blood counts, enlargement of the spleen, and an increased risk of infections due to compromised immune function.