Disorders

KBTBD13-Related Nemaline Myopathy

Synonym(s): NEM 6, NEM6, Nemaline Myopathy 6

Gene	Locus	Protein
KBTBD13	15q22.31	Kelch repeat and BTB domain-containing protein 13

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Ruhr University, Human Genetics - Bochum, Germany
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* 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.