Dyskeratosis Congenita Panel
Dyskeratosis Congenita Panel
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or have an abnormal shape (nail dystrophy); changes in skin coloration (pigmentation), particularly on the neck and chest, in a pattern often described as ""lacy""; and white spots inside the mouth
The mutations underlying Dyskeratosis congenita alter proteins involved in the maintenance of telomeres, the ends of chromosomes. Due to these alterations, telomeres shorten with each cell division, making the cells more vulnerable to apoptosis. This phenomenon particularly affects cells in active proliferation, such as those of the marrow and epithelia, with the consequent manifestation of the typical symptoms of DC.
For those with a suspected diagnosis of DC or to know your genetic risk if you have a positive family history of the condition
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 10 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Dyskeratosis Congenita
What You Get
Wellness ReportSee a report
The Wellness Report clarifies which habits are best suited to your genome, with actionable insights to live a better life.
Scientific Fitness ReportSee a 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.
Nutrigenomics ReportSee a 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.
Health and PredispositionsSee the report
Learn more about your risk to develop +50 diseases and conditions. Start taking a proactive approach to your health with our actionable insights.
How it works
Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.
The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.
This sequencing process reveals the order of nucleotides that make up the original DNA sample.
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
Would you like to speak with a genetic specialist? Book an individual session.
Our extensive network of geneticists will provide you with specialized genetic counseling on the topics that are most relevant for you such as diet and nutrition, fitness, injuries and many more.
Check out the full range of our additional reports, available upon completion of the Genome Test.
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