Disorders


 

KRT6A-Related Pachyonychia Congenita


Synonym(s): PC-K6a

 

OMIM

GeneLocusProtein
KRT6A12q13.13Keratin, type II cytoskeletal 6A

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.

Loading...