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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tetra-amelia syndrome


Other Names for this Disease
  • Tetra-amelia
  • Tetra-amelia, autosomal recessive
  • Tetraamelia, autosomal recessive
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Tests & Diagnosis


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How is tetra-amelia syndrome diagnosed?

The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied.[1]
Last updated: 2/11/2011

Is genetic testing available for tetra-amelia syndrome?

Genetic testing for tetra-amelia syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for tetra-amelia syndrome. To view the contact information for the clinical laboratories conducting testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 2/11/2011

References
  1. Stephan Niemann. Tetra-Amelia Syndrome. GeneReviews. August 28, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1276/. Accessed 2/11/2011.