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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Kabuki syndrome


Other Names for this Disease
  • Kabuki make up syndrome
  • KMS
  • Niikawa-Kuroki syndrome
  • NKS
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Tests & Diagnosis


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Is genetic testing available for Kabuki syndrome?

Yes, clinical genetic testing for Kabuki syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for Kabuki syndrome.

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. In the Services section, we provide a list of resources that can assist you in locating a genetics professional near you.
Last updated: 9/8/2011


Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.