Disorders


 

FBN1-Related Weill-Marchesani Syndrome


 

OMIM

GeneLocusProtein
FBN115q21.1Fibrillin-1

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Health in Code S.L. - A Coruña, Spain• Sequence analysis of the entire coding region
 
Mayo Clinic - Minnesota, Cardiovascular Laboratory Medicine Genetics - Rochester, MN, 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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