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Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The most common mutations are C282Y and H63D (EASL best practice guidelines, 2010).

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Polymerase chain reaction (PCR) is standard molecular biology method.

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Sanger sequencing is method that is used to detect nucleotide sequence in exon, gene.

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Venous thrombosis is a multicausal disease due to the interaction of genetic and environmental risk factors. Some of the recently discovered genetic risk factors, such as factor V Leiden and prothrombin G20210A mutations and C677T mutation in the gene MTHFR.

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The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Microdeletions occur in about one in 4000 men in the general population but its frequency is significantly increased among infertile men (Krausz C, 2014).

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