Disorders


 

Berardinelli-Seip Congenital Lipodystrophy Type 2


Synonym(s): Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2, BSCL Type 2, BSCL2, BSCL2-Related Brunzell Syndrome

 

OMIM

GeneLocusProtein
BSCL211q13Seipin

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Sequence analysis of the entire coding region
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium• Sequence analysis of the entire coding region
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• 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
 
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of the entire coding region
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region

* 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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