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  2. Diagnosing neurofibromatosis in adults involves the following steps12345:
    1. Physical examination by a doctor to look for signs and symptoms.
    2. Genetic testing to confirm the diagnosis.
    3. Imaging tests such as MRI, X-ray, or CT scan.
    4. Electromyography (EMG)/nerve conduction study (NCS) to measure electrical pathways in the nerves.
    5. Audiogram to assess hearing function (for neurofibromatosis type 2).
    Learn more:
    Neurofibromatosis disorders are often diagnosed by a doctor’s examination of the patient and genetic testing. After a careful history and examination, the doctor may order several tests including the following. MRI Electromyography (EMG)/nerve conduction study (NCS), to measure electrical pathways in the nerves.
    www.hopkinsmedicine.org/health/conditions-and-di…
    A healthcare provider will diagnose neurofibromatosis type 1 after a physical exam and testing. During the exam, they’ll look for signs of the condition and learn more about your symptoms. Tests may include: Imaging tests, like an MRI, X-ray or CT scan. Genetic testing. An eye exam.
    my.clevelandclinic.org/health/diseases/14422-neur…
    To diagnose any of the three types of neurofibromatosis —neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis—our doctors conduct a physical exam, take a medical history, and may perform imaging tests and genetic tests.
    nyulangone.org/conditions/neurofibromatosis/diagn…
    Neurofibromatosis type 1 symptoms can involve many different parts of the body. A doctor with expertise in NF1 can provide an accurate diagnosis based on the symptoms, family history, as well as genetic testing and other imaging tests or biopsy.
    www.hopkinsmedicine.org/health/conditions-and-di…
    Your physician might recommend a physical exam, imaging studies and an audiogram to assess hearing function. Genetic testing could also help confirm the diagnosis of NF2.
    www.hopkinsmedicine.org/health/conditions-and-di…
     
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  4. Neurofibromatosis type 1 - Diagnosis and treatment - Mayo Clinic

  5. Also known as: NF
    Content medically reviewed by
    Dr. Rakshith Bharadwajverified specialist
    MD, Internal Medicine
    View full profile onLinkedIn logoLinkedIn
    One or more of these tests may be recommended by your medical provider.
    Diagnosis involves examination of symptoms and detailed information about family history.
    Common tests & procedures

    X-ray: X-ray of bone is taken to detect bone abnormalities or tumors in the brain.

    CT scan: Identify bone abnormalities, tumors in the brain or spinal cord.

    Magnetic resonance imaging (MRI): To detect bone abnormalities, tumors in the brain or spinal cord. MRI provides more details than X-Ray or CT Scan.

    Genetic test: To get the detailed information about NF1 and NF2 genes.

    Biopsy: To check if it is cancerous.

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
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