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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Zellweger syndrome


Other Names for this Disease

  • Cerebrohepatorenal syndrome
  • CHR
  • Zellweger leukodystrophy
  • ZS
  • ZWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is Zellweger syndrome diagnosed?

A diagnosis of a Zellweger syndrome is usually suspected when characteristic signs and symptoms are present at birth, including the distinctive facial features. Tests that measure or detect specific substances in blood or urine samples can confirm a diagnosis of Zellweger syndrome. For example, detection of elevated levels of very long chain fatty acids (VLCFA) in the blood is the most commonly used screening test. Additional tests on blood and urine samples to find other substances associated with the condition may be performed. An ultrasound may be used to look for cysts on the kidneys or an enlarged liver. A genetic test to find a mutation in one of the genes associated with Zellweger spectrum disorders may also be used to confirm the diagnosis.[1][2]
Last updated: 12/7/2014

Is genetic testing available for Zellweger syndrome?

Yes. Clinical genetic testing is available for the twelve genes known to cause Zellweger syndrome.[2] Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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.
Last updated: 12/7/2014

References
  1. Zellweger Spectrum Disorders. NORD. September 15, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/363/viewAbstract.
  2. Steven J Steinberg, PhD, Gerald V Raymond, MD, Nancy E Braverman, MS, MD, and Ann B Moser, BA. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. May 2012; http://www.ncbi.nlm.nih.gov/books/NBK1448/.


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.
Other Names for this Disease
  • Cerebrohepatorenal syndrome
  • CHR
  • Zellweger leukodystrophy
  • ZS
  • ZWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.