Disorders


 

Udd Distal Myopathy


Synonym(s): Tibial Muscular Dystrophy, Udd Myopathy

 

GeneReviewOMIM

GeneLocusProtein
TTN2q31Titin

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA• Sequence analysis of the entire coding region
 
HIBM Research Group - Reseda, CA, USA• Sequence analysis of the entire coding region
 
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of select exons
• Deletion/duplication analysis
 
University of Tampere, Neuromuscular Research Unit, Neurogenetics - Tampere, Finland• Sequence analysis of select exons
• Targeted mutation analysis
 

* 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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