Category Archives: Tests

27 Laboratories that Currently Test For MECP2 Duplication Syndrome

Xq28duplicationThe National Center for Biotechnology Information’s Genetic Testing Registry currently lists 27 labs that test for MECP2 Duplication Syndrome.

The List of 27 includes labs located in the United States, Canada, Germany, the United Kingdom, Spain, Portugal, France, and Sweden. Since listing is voluntary and there are likely to be a number of other labs that currently due testing. As testing becomes commonplace the number of diagnosed cases is rapidly increasing.

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Request for info from Moms

Monica Coenraads is the Executive Director of the Rett Syndrome Research Trust. She feels that there might be something useful for understanding both Rett Syndrome and MECP2 Duplication Syndrome to be learned from women who carry the MECP2 duplication but do not have symptoms. Typically these would be moms or sisters of boys with MECP2 Duplication syndrome. She is looking for women or girls who have the duplication, are free of symptoms, have been tested for skewing (the selective inactivation of the X chromosomes with the duplication), and have been found to have normal skewing. If you happen to fit this profile, please consider contacting Monica. Continue reading

MeCP2 Duplication: Rare or Common?

14 June 2009 – Edmonton, AB, Canada From a parent’s perspective one of the strange things about MeCP2 Duplication syndrome is that it has been described both as rare and common. How rare is it? Continue reading