Dyskeratosis Congenita Panel
Dyskeratosis Congenita Panel
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$29.00 USD
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$29.00 USD
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This product is only meant for customers who already purchased a MyGenome Test
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.
List of main conditions:
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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
This product is only meant for customers who already purchased a MyGenome Test
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