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Bardet Biedl Syndrome Panel

Bardet Biedl Syndrome Panel

Regular price €29.00 EUR
Regular price Sale price €29.00 EUR
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This product is only meant for customers who already purchased a MyGenome 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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  • 1.

    Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.

  • 2.

    The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.

  • 3.

    This sequencing process reveals the order of nucleotides that make up the original DNA sample.

  • 4.

    We then compare the genome with a generic and globally recognized reference DNA sequence.

Simple Blood Sample Collection

Painless, quick at home sample collection. User friendly device with CE-IVD mark and FDA approval.

Simply follow the packaging instructions and send the sample back using the pre-paid returns label.

Genomic Consultation Service

Additional reports

Check out the full range of our additional reports, available upon completion of the Genome Test.

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