Bardet-Biedl Syndrome (BBS) is an inherited disease belonging to the group of disorders called ciliopathies, where there is a defect in primary cilia which plays a key role in sensory perception and various signalling pathways. It is a pleiotropic genetic disorder where patients typically present with truncal obesity, intellectual impairment as well as kidney, eye and genitalia anomalies. Most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. This disorder is clinically and genetically heterogenous with an array of clinical manifestations. It shows an autosomal recessive inheritance and is highly prevalent in consanguineous populations.
The Igenomix Bardet-Biedl Syndrome Precision Panel can serve as a directed diagnostic tool in making a differential diagnosis of ciliopathies ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
- The Igenomix Bardet-Biedl Syndrome Precision Panel is indicated in those cases where there is a clinical suspicion or diagnosis of BBS and/or the following manifestations:
- Truncal obesity
- Intellectual impairment
- Diabetes mellitus type 2, non-insulin dependent
- Night blindness
- Tunnel vision
- Loss of smell
- Small testicular size
- Hydronephrosis (large sized kidneys)
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis.
- Early initiation of treatment with a multidisciplinary team in the form of orthopaedic surgical care, appropriate weight reducing strategies, regular surveillance for renal function and early ophthalmology referral.
- Risk assessment and genetic counselling of asymptomatic family members to identify the individuals at risk.
- Improvement of delineation of genotype-phenotype correlation.
Bardet-Biedl syndrome. (2020, November 06). Retrieved March 04, 2021, from https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/#:~:text=Bardet%2DBiedl%20syndrome%20(BBS),also%20suffer%20from%20intellectual%20impairments.
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