Disorders


 

Lethal Congenital Contracture Syndrome 1


Synonym(s): LCCS1

 

OMIM

GeneLocusProtein
GLE19q34.13Nucleoporin GLE1

Laboratory Test Method Prenatal Carrier *
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• 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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