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UCD Genetic Testing Program at Baylor Genetics

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Baylor Genetics and Horizon Therapeutics have partnered together to offer genetic testing at no charge for individuals who may be
carriers of genes associated with urea cycle disorders.

Urea cycle disorders (UCD) are complex inborn errors of metabolism that lead to excess levels of ammonia in the body that can
become life threatening if not treated. UCDs are caused by defects in any of the six enzymes that are involved in the urea cycle,
which are encoded by the CPS1, NAGS, OTC, ASS1, ASL, ARG1, SLC25A13, and SLC25A15 genes. Defects in the transporter proteins
that are responsible for transporting metabolites into or out of the mitochondria while aiding in the production of ammonia, could
also lead to UCD.

Symptoms include low energy levels, heavy breathing, cognitive impairment, and vomiting. Patients who could benefit from genetic
testing include those with clinical or biochemical features suggestive of a UCD, family members of a patient affected by a UCD,
children with a UCD or suspected UCD diagnosis, and mothers with ornithine transcarbomylase (OTC) with mild or no symptoms.

Do you think your patient may have a UCD? Genetic testing can help you and your patient understand the cause of a UCD and provide
information about risks to family members.

The UCD Panel

Baylor Genetics’ UCD Panel evaluates all exons of the eight genes associated with UCDs by next-generation sequencing to help confirm a diagnosis of a UCD.

• ASS1
• ASL
• ARG1
• CPS1
• NAGS
• OTC
• SLC25A13
• SLC25A15

Who is Eligible for Testing?

The UCD genetic testing is sponsored and free of charge (in the US only). The eligibility requirements to qualify include:

• Patients with a suspected UCD diagnosis
• Patients with a family history of UCD

How to Order

Discuss testing and get consent from your eligible patient. Complete the requisition and include the form in the collection kit.

Collect your patient’s specimen (blood, buccal swab, or saliva DNA) using a UCD Genetic Testing Program collect kit and send with the label provided.

You will receive an email notification when patient results are ready, which can be retrieved via our online portal. An information sheet will accompany positive results.

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About Baylor Genetics

Baylor Genetics is a joint venture of H.U. Group Holdings, Inc. and the no. 1 NIH-funded genetics program at Baylor College of Medicine. For over 40 years, Baylor Genetics has been the leading pioneer in genetic testing. Currently, we offer a full spectrum of genetic testing and provide clinically relevant solutions.

About Horizon Therapeutics

Horizon Therapeutics is a global biotechnology company focused on the discovery, development, and commercialization of medicines that address critical needs for people impacted by rare, autoimmune, and severe inflammatory diseases. If you are interested in biochemical testing from Horizon Therapeutics (through Baylor Genetics), click here.