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Genetic testing

Clouston syndrome (Clouston Hidrotic Ectodermal Dysplasia)

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Clouston syndrome (Clouston Hidrotic Ectodermal Dysplasia)
Identification of common p.Gly11Arg, p.Val37Glu, p.Asp50Asn and p.Ala88Val mutations in the GJB6 gene
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
CLOU-1 330.00 zł up to 3 weeks

Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC).
Variant nomenclature according to the Human Genome Variation Society (HGVS) v.19.01. Exons are numbered according to the HGMD reference sequence and the full human genome (hg38).

Variant interpretation according to the American College of Medical Genetics and Genomics (ACMG).

NGS pathogenic variants confirmed by Sanger.

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