Disorders


 

TNNT1-Related Nemaline Myopathy


Synonym(s): Amish Nemaline Myopathy, NEM 5, NEM5, Nemaline Myopathy 5

 

OMIM

GeneLocusProtein
TNNT119q13.4Troponin T, slow skeletal muscle

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France• Sequence analysis of the entire coding region
• Linkage analysis
 
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
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Ruhr University, Human Genetics - Bochum, Germany• Sequence analysis of the entire coding region
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• 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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