Langerhans Cell Histiocytosis (LCH) is a rare disorder where abnormal immune system cells called Langerhans cells accumulate in organs and tissues. It is caused by genetic mutations, particularly BRAF mutations, which occur in approximately 50-60% of LCH cases and trigger uncontrolled cell growth. The BRAF Mutation Analysis is the most important test for diagnosing LCH because it identifies the specific genetic abnormality driving the disease and helps guide targeted treatment decisions.
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Langerhans Cell Histiocytosis is caused by genetic mutations that trigger abnormal growth and accumulation of Langerhans cells, which are specialized immune cells normally found in skin and other tissues. The BRAF V600E mutation is found in 50-60% of LCH cases and causes these cells to multiply uncontrollably and invade various organs including bones, skin, lungs, liver, and lymph nodes. Other genetic mutations in the MAP kinase pathway can also cause LCH, though BRAF is the most common driver of this rare disorder.
The BRAF Mutation Analysis is the most important blood test for Langerhans Cell Histiocytosis because it detects the specific genetic mutation driving the disease in over half of all cases. This test identifies the BRAF V600E mutation in your blood or tissue sample, which not only supports the diagnosis but also determines whether you may benefit from targeted therapies like BRAF inhibitors. While tissue biopsy remains the gold standard for confirming LCH by examining the abnormal cells directly, BRAF testing provides critical information about the genetic cause and helps your healthcare provider select the most effective treatment strategy for your specific type of LCH.
You should get tested if you experience unexplained bone pain or fractures, persistent skin rashes that do not respond to treatment, chronic ear infections with drainage, excessive thirst and urination suggesting diabetes insipidus, or enlarged lymph nodes along with other unexplained symptoms. Testing is especially important if imaging studies reveal unusual bone lesions or if your doctor suspects an abnormal accumulation of immune cells based on clinical findings. Early genetic testing with BRAF Mutation Analysis can help confirm the diagnosis quickly and guide your treatment plan before complications develop.
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What this means
Your test shows no BRAF V600E mutation was detected in your tumor sample. This means your cancer does not have this specific genetic change, which helps your oncologist understand which treatment options are most appropriate for you. While BRAF inhibitors may not be effective, other targeted therapies or treatment approaches can still be highly successful.
Recommended actions
Discuss alternative targeted therapy options with your oncologist based on your cancer type
Consider testing for other genetic mutations like RAS or other actionable markers
Work with your cancer care team to develop a personalized treatment plan
Maintain open communication with your healthcare providers about treatment response and any new symptoms
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