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

GeneLocusProtein
AGPAT29q34.31-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.

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