Please ensure JavaScript is enabled for purposes of website accessibility UCD Genetic Testing & OTC Deficiency Newborn Screening | For HCPs

Genetic Testing Urea Cycle Disorder Genetic Testing

Signs and symptoms of urea cycle disorders (UCDs) can vary from person to person.

urea-cycle-diagram
urea-cycle-diagram

Identifying a Urea Cycle Disorder

Genetic testing may identify affected enzymes that can cause a urea cycle disorder (UCD). A sample is taken and sent to a laboratory where the patient’s DNA is analyzed to identify a defective gene.

Optimizing-patient-outcomes-genetic-testing
Optimizing-patient-outcomes-genetic-testing

Optimizing Patient Outcomes

Genetic testing and counseling are vital to optimizing patient outcomes by assisting in assessing risk, diagnosing family members, and helping inform disease management decisions.1-3 Identifying affected family members prior to disease presentation allows measures to be taken to prevent hyperammonemia.3

medical-professional-holding-newborn-baby
medical-professional-holding-newborn-baby-mobile

Genetic Testing in Newborns

Although genetic testing is important, identifying UCDs in newborns can be challenging. Newborn screening tests for UCDs vary state to state, and not all UCD subtypes have a newborn screening test.3

Ornithine transcarbamylase (OTC) deficiency is the most common UCD subtype. However, the only states that provide OTC deficiency newborn screening are3,4

  • Connecticut
  • New Hampshire
  • Kentucky
  • Rhode Island
  • Maine
  • Vermont
  • Massachusetts
resources-practice

See Which Labs to Monitor in Patients With a UCD

See how genetics can impact patients and families

1.-Genetic-Testing

Explore Genetic Testing

A no-cost genetic testing option can help you and your patient understand the cause of a UCD

  • References

    1. Fujisawa D, Mitsubuchi H, Matsumoto S, et al. Early intervention for late-onset ornithine transcarbamylase deficiency. Pediatr Int. 2015;57(1):e1-e3. 2. National Organization for Rare Disorders. The Physician’s Guide to Urea Cycle Disorders. Accessed March 23, 2020. https://rarediseases.org/physician-guide/urea-cycle-disorders/ 3. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; April 29, 2003. 4. Lichter-Konecki U, Caldovic L, Morizono H, Simpson K, Ah Mew N, MacLeod E. Ornithine transcarbamylase deficiency. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; August 29, 2013.