Disorders


 

Multicentric Carpotarsal Osteolysis Syndrome


Synonym(s): Hereditary Osteolysis of Carpal Bones with or without Nephropathy, MCTO, Multicentric Osteolysis of Carpal Bones and Nephropathy, Multicentric Osteolysis, Autosomal Dominant

 

OMIM

GeneLocusProtein
MAFB20q11.1-q13.1Transcription factor MafB

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• 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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