Disorders

Centronuclear Myopathy 2

Synonym(s): Centronuclear Myopathy, Autosomal Recessive, Myotubular Myopathy, Autosomal Recessive

Gene	Locus	Protein
BIN1	2q14	Myc box-dependent-interacting protein 1

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
CHRU - Nouvel Hopital Civil, Laboratoire Diagnostic Genetique - Strasbourg, France	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GSTS Pathology, DNA Laboratory - London, Great Britain	• 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
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.