Start order

The UCD Genetic Testing Program, sponsored by Horizon Pharma and performed by Invitae, provides access to genetic testing for people suspected of having a urea cycle disorder (UCD), and their family members, at no charge.

The UCD Genetic Testing Program provides testing to patients with a suspected diagnosis of a UCD or a family history of a UCD.

About urea cycle disorders

  • UCDs are a group of rare genetic diseases that affect about 1 in 35,000 births in the United States.

  • UCDs are characterized by potentially toxic elevations of ammonia levels in the blood and brain (hyperammonemia). In people living with UCDs, the liver is unable to metabolize ammonia so that it can be eliminated from the body in the urine. This results in elevated ammonia levels and leads to an accumulation of ammonia in the bloodstream. Excess ammonia can cross the blood–brain barrier and act as a neurotoxin in the brain. Left untreated, hyperammonemia can result in coma, brain damage, and, in some cases, even death.

  • Ornithine transcarbamylase (OTC) deficiency is the most common UCD subtype. It is passed on from a mother to her child via the X chromosome. In rare cases, OTC can also be passed down from a father to his daughter via the X chromosome. While a parent with the OTC gene is a carrier, they may not know they have OTC until their child is diagnosed. Approximately 20% of carrier females have symptoms of the disorder and rarely may be severely affected in childhood. Symptoms for adults who have OTC deficiency can range from migraines and nausea to confusion, ataxia, and even hallucinations.1

Eligibility

Learn more

Instructions

Learn more

Program eligibility

To qualify for no-charge testing through the UCD Genetic Testing Program, the patient must meet one of the following criteria:

  • A suspected diagnosis of a urea cycle disorder

-OR-

  • A family history of urea cycle disorder

Genetic testing with Invitae

The UCD Genetic Testing Program offers testing with the Invitae Hyperammonemia Panel.
The Invitae Hyperammonemia Panel includes 58 genes that are associated with the enzymes and transporter proteins responsible for the production and detoxification of ammonia. Deficiency of any of these proteins may result in an excess of ammonia in the blood; a condition known as hyperammonemia.
Once Invitae receives your patient’s blood or saliva specimen, their results will be available in 10 to 21 calendar days, on average.

View panel

No-charge ordering made easy

Place your order Collect  a sample Receive results

To place a paper-based order, download the paper order form.

To place an order online:

  1. Sign up for an account and start a new order
  2. Under Test Selection, click on the Partnership Programs tab and enter UCD in the Invitae Partner Code field
  3. Use the search bar to find and select the Invitae Hyperammonemia Panel
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. Fill out, print and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen

To collect a specimen:

  1. Order a specimen collection kit (blood or saliva)
  2. Collect the specimen and ship it back to Invitae
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information, please see specimen and shipping requirements

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae provides clinical-grade, medically actionable genetic information to answer essential health questions across all stages of life.

About Horizon Pharma

Horizon Pharma plc is focused on researching, developing and commercializing innovative medicines that address unmet treatment needs for rare and rheumatic diseases. By fostering a growing pipeline of medicines in development and exploring all potential uses for currently marketed medicines, we strive to make a powerful difference for patients, their caregivers and physicians. For us, it’s personal: by living up to our own potential, we are helping others live up to theirs. For more information, please visit www.horizonpharma.com, follow us @HZNPplc on Twitter, like us on Facebook or explore career opportunities on LinkedIn.

Disclaimer

While Horizon Pharma provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. Horizon Pharma receives de-identified patient data from this program, but at no time does Horizon Pharma receive patient identifiable information. Horizon Pharma receives contact information for healthcare professionals who use this program. Genetic testing and counseling are only available in the US. Healthcare professionals and patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Horizon Pharma product.

Reference

1. Ornithine transcarbamylase deficiency. National Organizations for Rare Disorders (NORD) website. https://rarediseases.org/rare-diseases/ornithine-transcarbamylase-deficiency. Accessed March 20, 2019.