Disorders


 

TPM2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B


Synonym(s): TPM2-Related Arthrogryposis, Distal, Type 2B, TPM2-Related DA2B

 

OMIM

GeneLocusProtein
TPM29p13Tropomyosin beta chain

Laboratory Test Method Prenatal Carrier *
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France• Sequence analysis of the entire coding region
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, 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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