Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder clinically characterized by the presence of photoreceptor dystrophy (rod-cone), postaxial polydactyly, truncal obesity, learning disabilities, hypogonadism in males, genital abnormalities in females, and renal abnormalities. A wide range of clinical variability may be observed and a variety of secondary features may also occur. BBS is most commonly inherited in an autosomal recessive manner.
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- Daiger et al. (1998) Invest Ophthalmol Vis Sci 39:S295.
This test is indicated for:
- Confirmation of a clinical diagnosis of Bardet-Biedl syndrome.
- Carrier testing in adults with a family history of Bardet-Biedl syndrome.
Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.
Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Please include fundus photographs, electroretinogram (ERG) findings, visual field findings, and visual acuity, if available, for expert review and clinical correlation with test results.
- Bardet-Biedl Syndrome: Sequencing Panel
- Eye Disorders: Comprehensive Sequencing
- Eye Disorders: Deletion/Duplication Panel