Neurofibromatosis diagnosis - Search
  1. 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

    People also ask

    When is neurofibromatosis diagnosed?
    A diagnosis of NF1 is usually made by age 4. Genetic testing may help establish the diagnosis. There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.
    www.mayoclinic.org/diseases-conditions/neurofibromato…
    How is fibromyalgia diagnosed?
    Fibromyalgia is a medical condition that affects muscles, joints and overall body fatigue. Certain criteria are to be met by the patient to be diagnosed with fibromyalgia. The patient must experience pain in four of the five regions used to diagnose and differentiate. Investigations like complete blood count, rheumatoid factor, ESR, Thyroid test, Serum Vitamin D, and cyclic citrullinated peptide test are used to diagnose fibromyalgia.
    microsoftstart.msn.com/en-us/health/ask-professionals/i…
    How is neurofibromatosis type 1 diagnosed?
    Two must be met for the diagnosis of neurofibromatosis type 1. Genetic testing is not routinely done. Differential diagnosis includes neurofibromatosis type 1-like syndrome, familial cafe-au-lait spots, and segmental neurofibromatosis type 1. The nf1-like syndrome was first described in 2007.
    www.ncbi.nlm.nih.gov/books/NBK459329/
    How do I find a neurofibromatosis specialist?
    Find a primary care doctor you can trust and who can coordinate your child's care with other specialists. The Children's Tumor Foundation has an online tool to help you find a neurofibromatosis specialist in your area.
    www.mayoclinic.org/diseases-conditions/neurofibromato…
    Is genetic testing necessary for neurofibromatosis?
    Genetic testing is available for neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis, under the supervision of physicians and genetic counselors at NYU Langone’s Clinical Genetic Services. Genetic testing isn’t necessary for most people.
    nyulangone.org/conditions/neurofibromatosis/diagnosis
    Is neurofibromatosis type 2 a clinical diagnosis?
    It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas (VS) and meningiomas. It has an autosomal dominant inheritance pattern. Treatment for neurofibromatosis types 1 and 2 is clinical monitoring and medical intervention when appropriate.
    www.ncbi.nlm.nih.gov/books/NBK459329/
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