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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Muenke Syndrome

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Muenke Syndrome
Identification of the p.Pro250Arg mutation in the exon 7 of the FGFR3 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
MUE-1 360.00 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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