Disorders

Congenital Contractural Arachnodactyly

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

GeneReview OMIM

Gene	Locus	Protein
FBN2	5q23-q31	Fibrillin-2

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