Disorders

Pseudoxanthoma Elasticum

Synonym(s): Gronblad-Strandberg Syndrome, Pseudoxanthoma Elasticum, Dominant, Pseudoxanthoma Elasticum, Recessive, PXE, PXE, Dominant, PXE, Recessive

GeneReview OMIM

Gene	Locus	Protein
ABCC6	16p13.11	Multidrug resistance-associated protein 6

Laboratory	Test Method	Prenatal	Carrier *
Gene Analysis Service - Berlin, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of select exons
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of select exons

^* 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.