Disorders

NEB-Related Nemaline Myopathy

Synonym(s): NEM 2, NEM2, Nemaline Myopathy 2

Gene	Locus	Protein
NEB	2q22	Nebulin

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel
HIBM Research Group - Reseda, CA, USA
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA	• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Targeted mutation analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Ruhr University, Human Genetics - Bochum, Germany	• Sequence analysis of select exons • Mutation scanning of select exons

^* 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.