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Lysosomal Storage Disorders Panel

Lysosomal Storage Disorders Panel

Regular price €49.00 EUR
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The Lysosomal storage disease test is based on Whole Genome Sequencing Test. Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. New lysosomal storage disorders continue to be identified. Although the signs and symptoms vary from disease to disease in this group, symptoms occur in each case because of an enzyme deficiency that inhibits the ability of the lysosomes present in each of the body’s cells to perform their normal function. Each cell has hundreds of lysosomes that degrade complex cellular components such as proteins (substrates) into simpler components. When this process does not take place, the substrate begins to accumulate in the cells. That is why these diseases are called “storage diseases”. The symptoms of lysosomal storage disorders are generally progressive over a period of time.Along with environmental factors, Genetics plays a key role in the regulation of Isovaleric Acidemia. - 11 gene analyzed - 100% of genomic regions covered - Intragenic and intergenic regions analyzed - All variants paneled


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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.

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