Getting tested for CTX

If you think you or your loved one is affected by cerebrotendinous xanthomatosis (CTX), here’s how you can advocate for testing. Use the symptom checker and download the doctor discussion guide to help you explain these symptoms with a doctor.

Be prepared when speaking with a doctor.

  1. Track current and past symptoms of CTX. Remember, every person experiences CTX differently throughout life with certain symptoms starting earlier or later in life.

    USE THE SYMPTOM CHECKER

    Check off all the symptoms you’ve experienced:

    Symptoms selected are not enough to suspect CTX. Check for other symptoms or think of other symptoms that may have occurred in the past. Remember not all symptoms of CTX will happen at the same time.

    Symptoms selected are enough to suspect CTX. You’re ready to print your doctor discussion guide.

    Download and print

    Not ready to complete the symptom checker? Download and print a blank doctor discussion guide to fill out later.

  2. Print your doctor discussion guide and bring it to your doctor. Because CTX is an uncommon disease, it’s important to share with the doctor what CTX is and all possible signs and symptoms. Ask the doctor—based on your symptoms—if he or she thinks these could be caused by CTX.

    • If no, ask what else could be causing all of these symptoms.
    • If yes, ask if you can be tested for high levels of a substance found in people with CTX through a dried blood spot test which is available for your doctor to order for free to qualifying patients at testctx.com.
    • If blood tests are abnormal, genetic testing is an alternate way to confirm CTX.

    Retrophin, Inc. has partnered with Oregon Health and Science University’s Sterol Analysis Laboratory to offer a free DBS test to qualifying patients to help diagnose CTX. Positive CTX test results will be confirmed by genetic testing.

    To order this free DBS test, have your doctor visit testctx.com to learn more.


Which doctor should you talk to?

Depending on the symptoms or age when CTX is suspected, you may want to talk to certain specialists about making a diagnosis.

  • If you are the parent of a child who may have CTX, talking to the pediatrician, gastroenterologist, or eye doctor (if he/she has been treated for cataracts in both eyes) would be a good place to start.
  • For a teenager or adult, you may want to talk to an internist or neurologist who is familiar with the symptoms.

Once a diagnosis for CTX is confirmed, other specialists may become involved in the care of you or your child. Due to the different signs and symptoms, the following specialists may be necessary:

  • metabolic specialists
  • geneticists
  • neurologists
  • dermatologists
  • gastroenterologists
  • lipidologists
  • endocrinologists
  • internists
Only with a confirmed diagnosis of CTX can the right care and treatment begin.

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