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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Inherited polyposes

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Inherited polyposes
Familial Adenomatous Polyposis (FAP). Identification of the 4 most frequent mutations in the APC gene: c.3927_3931delAAAGA, c.3183_3187delACAAA, c.3202_3205delTCAA, p.Tyr500* and other mutations in exon 14 and analysed fragment of exon 18 of the APC 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
APC-1 525.00 zł up to 4 weeks
Inherited polyposes
Adenomatous polyposis (FAP, MAP, juvenile). Screening NGS analysis of APC, MUTYH, BMPR1A and SMAD4 genes
   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
POLYPOSIS-NGS 2,500.00 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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