Disorders

Chondrodysplasia Punctata 1, X-Linked

Synonym(s): Arylsulfatase E Deficiency, CDPX1

Gene	Locus	Protein
ARSE	Xp22.33	Arylsulfatase E

Laboratory	Test Method	Prenatal	Carrier *
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.