Skip to product information
1 of 1

Pendred Syndrome Report

Pendred Syndrome Report

Regular price €49.00 EUR
Regular price Sale price €49.00 EUR
Sale Sold out
Pendred Syndrome is the most common form of congenital bilateral deafness and is accompanied by euthyroid goiter (benign thyroid hypertrophy not associated with altered hormone levels). Transmitted with an autosomal recessive modality, in affected subjects it can also lead to the appearance of vestibular dysfunctions (the vestibular apparatus, located in the inner ear, allows to maintain the balance of the body especially during movements).
The typical characteristic of Pendred Syndrome is the so-called Mondini malformation, given by the combination of widening of the vestibular aqueduct and deformity of the cochlea.
The main mutations leading to Pendred Syndrome affect the functionality of pendrin, a protein expressed in the inner ear, breast, testes, kidney and thyroid. Hence the manifestations also affecting this gland, apparently far from the sensorineural deafness found in Pendred. This protein acts as a transporter of ions (including chloride and bicarbonate), giving rise to tissue-specific effects: in the inner ear it guarantees the right endolymphatic pressure and in the thyroid it regulates the transport of iodine, essential for the synthesis of thyroid hormones. While in the inner ear changes in pendrin are not compensated by other mechanisms (thus giving rise to the deafness of Pendred Syndrome), in the thyroid iodine can be carried by more transporters (hence the euthyroid phenotype that of the affected subjects) .
Progressive hearing loss in affected subjects can manifest itself from birth or in the first years of life, worsening over time and representing a serious obstacle to language acquisition. Some children become completely deaf.
See more about the product
  • Wellness Report

    The Wellness Report clarifies which habits are best suited to your genome, with actionable insights to live a better life.

    See a report 
  • Scientific Fitness Report

    The Fitness report gives you actionable advice on training, sports, fitness and physical activity. This will help you develop the right workout for you based on your whole genome.

    See a report 
  • Nutrigenomics Report

    Learn about the relationships between food groups and your genes. Using this report, you can create the most effective and personalized diet with a specialist.

    See a report 
  • Health and Predispositions

    Learn more about your risk to develop +50 diseases and conditions. Start taking a proactive approach to your health with our actionable insights.

    See the report 
  • 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.

1 of 12
1 of 5