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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Haemochromatosis

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Haemochromatosis
Identification of the most frequent mutations p.Cys282Tyr and p.His63Asp together with other mutations in exons 2 and 4 of the HFE 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
HFE-1 405.00 zł up to 3 weeks
Haemochromatosis
NGS analysis of HFE, HFE2, HAMP, TFR2 and SLC40A1 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
HFE-NGS 2,600.00 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.


Haemochromatosis

Haemochromatosis (bronzed diabetes) results from a congenital metabolism disorder that consists in an excessive absorption and accumulation of iron ions. The latter are accumulated in the organs (especially in the liver and the pancreas)as haemosiderin. Consequently, fibrosis develops in the organs and may lead to cirrhosis as well as tumours.

Probability of the disease's development:

Symptoms usually show when a person is aged 40-60. Main symptoms are excessive skin pigmentation, especially facial, and cirrhosis. Among additional symptoms observed are fatigue, joint pains, stomachic and intestinal disorders. The risk of the occurance of this disease is much higher in the case of men, since during the menstrual cycle and lactation, when there is blood loss, the accumulation of iron ions in the female organism is reduced.

Haemochromatosis increases the risk of liver cancer by more than 200 times. Genetic research shows that 1 in 10 persons transmits a mutation in the the haemochromatosis gene but symptoms show only in the case of homozygotes. The highest frequency of the HFE gene mutation's occurrence can be observed among the Skandinavian population (1/200). 10% of the whole population are carriers of one or two mutations. The commonness of the occurrence of mutations makes primary haemochromatosis one of the dominant congenital diseases.

Our tests offer the possibility of identifying the HFE gene mutation, which may lessen the risk of both liver cancer and damages to other organs.




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