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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Carnitine-acylcarnitine translocase deficiency


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Tests & Diagnosis


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Is there genetic testing available for carnitine-acylcarnitine translocase deficiency?

Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis.[1]
Last updated: 7/26/2013

References
  1. Carnitine-acylcarnitine translocase deficiency. Screening, Technology and Research in Genetics. October 5, 2007; http://www.newbornscreening.info/Parents/fattyaciddisorders/CAT.html. Accessed 4/4/2008.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
  • The Screening, Technology, and Research in Genetics (STAR-G) Project was a multi-state collaborative effort to obtain research data, identify strategies, and develop written materials for addressing the financial, ethical, legal and social issues surrounding the use of tandem mass spectrometry for newborn screening. As part of the STAR-G Project, fact sheets on newborn screening disorders have been developed for parents. To view the fact sheet on carnitine acylcarnitine translocase deficiency (CAT), visit the STAR-G link.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.