Disorders


 

Benign Chronic Pemphigus


Synonym(s): BCPM, Hailey-Hailey Disease, HHD, Pemphigus, Benign Familial

 

OMIM

GeneLocusProtein
ATP2C13q21.3Calcium-transporting ATPase type 2C member 1

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, 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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