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Genetic and Rare Diseases Information Center (GARD)

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Harlequin ichthyosis

Other Names for this Disease
  • Harlequin fetus
  • Ichthyosis congenita, Harlequin fetus type
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Your Question

Can Harlequin ichthyosis be diagnosed before birth? Specifically, can it be diagnosed by amniocentesis or chorionic villus sampling (CVS)?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can Harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling?

Yes, Harlequin ichythosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. GeneTests lists the names of laboratories that are performing genetic testing for Harlequin ichthyosis. 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: 12/7/2009