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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Thanatophoric dysplasia type I

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Thanatophoric dysplasia type I
Identification of the most frequent mutations: p.Arg248Cys, p.Tyr373Cys and other mutations in exons 7 and 10 of the FGFR3 gene
   We perform genetic testing from:
  • venous blood collected into a morphological tube containing EDTA
  • trophoblast
DTAN-1 600.00 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.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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