Disorders


 

Geleophysic Dysplasia 2


Synonym(s): GPHYSD2

 

OMIM

GeneLocusProtein
FBN115q21.1Fibrillin-1

Laboratory Test Method Prenatal Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of select exons
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• 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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