Disorders


 

KRT6B-Related Pachyonychia Congenita


Synonym(s): PC-K6b

 

OMIM

GeneLocusProtein
KRT6B12q13.13Keratin, type II cytoskeletal 6B

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA• 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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