Disorders


 

FREM2-Related Fraser Syndrome


 

OMIM

GeneLocusProtein
FREM213q13.3FRAS1-related extracellular matrix protein 2

Laboratory Test Method Prenatal Carrier *
CGC Genetics - Porto, Portugal• Sequence analysis of select exons
  
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Mutation scanning 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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