Bardet-Biedl syndrome 10
Analysis ID 237
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Bardet-Biedl syndrome 10
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 Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes BBS10
Analysis description Sequencing of the entire coding region of the BBS10 gene. Mutations in BBS10 gene are said to be responsible for 20% cases of Badet–Biedl syndrome.
Analysis indication Symptoms of Bardet–Biedl syndrome
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders