- Benign familial pemphigus
- Benign chronic pemphigus
- Familial benign pemphigus
- Benign chronic familial pemphigus of Hailey-Hailey
Your QuestionCan prenatal genetic screening be done for the ATP2C1 responsible for Hailey-Hailey disease? If so, how who you advise a couple to move forward if they were wanting to conceive a child free of this genetic disorder? The mother is the gene carrier.
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In most cases, the gene mutation must first be identified in an affected parent before genetic testing can be performed on a fetus. Genetic Testing Registry (GTR) lists the names of laboratories that are performing genetic testing for Hailey-Hailey disease. To view the contact information for the clinical laboratories conducting testing, click here.
Please note: Most of the laboratories listed through GTR 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. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
PGD represents an alternative to prenatal diagnosis. It is used following in vitro fertilization to diagnose a genetic disease or condition in embryos. Only embryos that do not carry the disease-causing mutation are implanted in the mother's womb. PGD allows testing to occur before a pregnancy begins.
In many cases, the disease-causing mutation must be identified in an affected relative before PGD or prenatal diagnosis can be performed.
You can learn more about these and other tests by visiting the links below to the view information on this topic developed by the March of Dimes and Genes in Life:
- Benign Chronic Pemphigus. GENETests. https://www.genetests.org/disorders/index.php?prenatal=Y&disid=2902&user_submitted=1&filter_status=1. Accessed 12/30/2015.
- Molina B. Dayal, Ioanna Athanasiadis. Preimplantation Genetic Diagnosis. Medscape. November 04, 2013; http://emedicine.medscape.com/article/273415-overview. Accessed 12/30/2015.
- Prenatal tests. March of Dimes. March 2015; http://www.marchofdimes.org/pregnancy/prenatal-tests.aspx#. Accessed 12/30/2015.