National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Harlequin ichthyosis

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Can Harlequin ichthyosis be diagnosed before birth? Specifically, can it be diagnosed by amniocentesis or chorionic villus sampling (CVS)?
Yes, harlequin ichthyosis 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. 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 specific genetic test should contact a health care provider or a genetics professional.  
Last updated: 2/6/2015

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GARD Information Specialist

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