Disorders

Alpha-B Crystallinopathy

Synonym(s): Alpha-B Crystallin-Related Myopathy

Gene	Locus	Protein
CRYAB	11q22.3-q23.1	Alpha-crystallin B chain

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland

^* 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.