Disorders


 

Pseudoxanthoma Elasticum


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

 

GeneReviewOMIM

GeneLocusProtein
ABCC616p13.11Multidrug resistance-associated protein 6

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

* 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.

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