Disorders


 

Postaxial Acrofacial Dysostosis


Synonym(s): Genee-Wiedemann Syndrome, Miller Syndrome, POADS

 

OMIM

GeneLocusProtein
DHODH16q22.2Dihydroorotate dehydrogenase (quinone), mitochondrial

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 

* 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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