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Bardet-Biedl syndrome
Analysis ID 172
Analysis location Collaboration with another facility
Diagnosed illness Bardet-Biedl syndrome
OMIM 209900
Clinical information Bardet-Biedl syndrome (BBS) is an autosomal recessive genetic condition characterized by multiple congenital defects and symptoms. There is a high interfamilial and intra-familial clinical variability of the features that can occur within its clinical spectrum. Vision loss is one of the most severe symptoms of BBS. Obesity is an additional characteristic feature of Bardet-Biedl syndrome. Complications such as type 2 diabetes, hypertension, and hypercholesterolemia are frequent. Other major signs of BBS include postaxial polydactyly of hands and feet, intellectual disability or learning problems, and abnormal genitalia.
Type of analysis Microarray
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes
Analysis description Analysis consists of 308 mutations in 14 genes studied with use of microarray technology
Analysis indication Symptoms of Bardet-Biedl syndrome.
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders