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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Wilson Disease

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Wilson Disease
Identification of the most frequent mutation p.His1069Gln and other mutations in exon 14 of the ATP7B 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
WD-1 255.00 zł up to 3 weeks
Wilson Disease
NGS analysis of the ATP7B 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
WD-NGS 2,250.00 zł up to 8 weeks

Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC).
Variant nomenclature according to the Human Genome Variation Society (HGVS) v.15.11. 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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