Disorders


 

Congenital Contractural Arachnodactyly


Synonym(s): Arachnodactyly, Contractural Beals Type, Beals Syndrome, Beals-Hecht Syndrome, CCA, Contractures, Multiple with Arachnodactyly

 

GeneReviewOMIM

GeneLocusProtein
FBN25q23-q31Fibrillin-2

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of select exons
 
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Mutation scanning of select exons
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 

* 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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