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Bardet Biedl Syndrome Panel

Bardet Biedl Syndrome Panel

Prix habituel €29.00 EUR
Prix habituel Prix soldé €29.00 EUR
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This product is only meant for customers who already purchased a Dante Genome Test

Bardet Biedl Syndrome is a rare genetic disease belonging to the group of ciliopathies, pathological conditions affecting the ciliary apparatus of cells. Hair cells are found in numerous body districts such as the eyes and kidneys, where they function as sensory receptors or elements of intercellular communication, respectively. In other cases, cilia are required for cell movement. Genetic mutations affecting the eyelashes involve, in Bardet Biedl Syndrome, serious alterations of cellular signaling during development, involving the impairment of sensory functions.
This panel is recommended for individuals with symptoms of vision loss, obesity, or intellectual disability, as well as those with a family history of Bardet-Biedl Syndrome. It could be particularly suitable for children with typical signs and symptoms of Bardet Biedl Syndrome, such as polydactyly/syndactyly, genitourinary malformations, and nephropathy.

The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.

  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • More than 25 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Bardet Biedl Syndrome
  • Nephronophthisis
  • Senior-Loken Syndrome
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Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.