Disorders


 

TPM3-Related Congenital Fiber-Type Disproportion


Synonym(s): TPM3-Related CFTDM, TPM3-Related Congenital Myopathy with Fiber-Type Disproportion

 

OMIM

GeneLocusProtein
TPM31q21.2Actin, alpha skeletal muscle

Laboratory Test Method Prenatal Carrier *
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

* 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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