A genetic test or “DNA test” allows doctors to find out if you have any defective genes that may cause a urea cycle disorder (UCD). A genetic test can be ordered by a primary care doctor, a metabolic geneticist, or a genetic counselor.

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During a genetic test, a doctor or nurse takes a sample of your DNA. This is usually done by drawing your blood or swabbing the inside of your mouth.

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Then, your sample is sent to a lab where doctors look at your DNA to see if they find the defective gene that causes a UCD.

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The results are sent back to your doctor, who will explain whether you have any defective genes that can cause a UCD and what that means for your health.

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You can find out if you have a UCD or carry the gene
that causes a UCD with a genetic test at no cost to you

Some carriers of a UCD gene may not know they have it until their child is diagnosed because they may not have symptoms of a UCD. But in the case of mothers who carry a UCD gene that is part of the OTC deficiency subtype, they can have subtle signs and symptoms, which should not be ignored. Even mild symptoms are a sign that the ammonia in the blood has risen to a high level and can cause serious health problems over time.

Also, members of a family share some of the same genes, so if one member of a family learns they have a UCD, there may be others who are affected as well. If you or your child has been diagnosed with a UCD, it’s important to pay attention to other relatives, especially children, who may have similar signs and symptoms. A UCD should be considered in any person with unexplained out-of-character behavior that may include:

  • Low appetite
  • Irritability
  • Fogginess
  • Low energy
  • Vomiting
  • Heavy or rapid breathing
  • Aggressive behavior

Some people with mild symptoms may have a UCD but not know it until it gets diagnosed later in life. By then they can have ammonia building up in their body to toxic levels over the years, causing permanent brain damage. If you or any family members are having these symptoms, talk to your doctor and find out who in your family should be tested for a UCD.

UCD and Genetic Testing Terms

Learn more about getting a genetic test at no cost to you

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View a video and get tips to help you talk to your doctor about UCD management

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