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Congenital Disorders of Glycosylation Panel

Congenital Disorders of Glycosylation Panel

Prix habituel €29.00 EUR
Prix habituel Prix soldé €29.00 EUR
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This product is only meant for customers who already purchased a Dante Genome Test

Congenital disorders of glycosylation (CDG) include a large group of rare genetic diseases in which the process of adding sugar molecules (glycans) to cellular proteins is impaired. This post-translational chemical modification is called ""glycation"" and is fundamental for the functionality of cells and the organism. There are many subtypes of CDG. The symptoms are vast and involve different parts of the body. Among the most common symptoms are low muscle tone or flaccidity (hypotonia), liver disease, strabismus, developmental delays, abnormal bleeding or blood clotting, stroke-like episodes and heart problems. There is currently no cure for Congenital disorders of glycosylation; treatment is based on symptom management and is aimed at improving the quality of life of affected people.
This test may be appropriate for patients in whom a congenital disorder of glycosylation is suspected due to clinical symptoms or biochemical findings. Genetic testing can help in diagnosis and in providing information on risks for other family members.

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
  • 51 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Congenital disorder of glycosylation, type Ic
  • Congenital disorder of glycosylation, type Ia
  • Congenital disorder of glycosylation, type Ig
  • Congenital disorder of glycosylation, type Il
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Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.