Disorders


 

Brooke-Spiegler Syndrome


Synonym(s): BSS

 

OMIM

GeneLocusProtein
CYLD16q12-q13Ubiquitin carboxyl-terminal hydrolase CYLD

Laboratory Test Method Prenatal Carrier *
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• 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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