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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Hereditary breast/ovarian cancer - analysis the BRCA1 gene mutations in accordance with EMQN recommendations

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Hereditary breast/ovarian cancer - analysis the BRCA1 gene mutations in accordance with EMQN recommendations
Sequence analysis of selected BRCA1 gene exons (2, 5, 20 and a fragment of 11) in order to identify the most frequent and founder mutations in the Polish population (c.5266dupC (5382insC), p.Cys61Gly (C61G, 300T>G), c.3700_3704del (3819del5), c.68_69delAG (185delAG), p.Arg1751* (C5370T), c.3756_3759delGTCT (3875del4), c.4035delA (4153delA), c.3779delT (3896delT))
   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
BRCA1-1 435.00 zł up to 3 weeks
Hereditary breast/ovarian cancer - analysis the BRCA1 gene mutations in accordance with EMQN recommendations

   We perform genetic testing from:
  • venous blood collected into a morphological tube containing EDTA
BRCA1-MLPA 700.00 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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