Disorders

Berardinelli-Seip Congenital Lipodystrophy Type 1

Synonym(s): AGPAT2-Related Brunzell Syndrome, Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1, BSCL Type 1, BSCL1

OMIM

Gene	Locus	Protein
AGPAT2	9q34.3	1-acyl-sn-glycerol-3-phosphate acyltransferase beta

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.