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  • Alfa – 1 Antitrypsin deficiency (determination of mutations PIZ and PIS in the gene SERPINA1)

    Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. COPD can be caused by alpha-1 antitrypsin deficiency. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Most common mutations are PIZ and PIS (

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  • Detection of 50 most common cystic fibrosis mutations

    Cystic fibrosis (CF) is caused by mutations in the CFTR gene. dF508 mutation, is found in 1:30 Caucasians and is most common mutation that is found in 60% of all CF causing alleles. Test includes 50 most common CF causing mutation in Europeans, including IVS8-5T.

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  • Detection of Cystic fibrosis mutation dF508 (CFTR gene)

    dF508 mutation (alternative names: rs113993960, NM_000492.3:c.1521 1523delCTT (p.Phe508del, F508del)), is found in 1:30 Caucasians and in homozygous state or in compound heterozygous state with other CF causing allele is causing Cystic fibrosis. Worldwide, the ∆F508 mutation is responsible for approximately two thirds (66%) of all CF chromosomes (Bobadilla JL, 2002).

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  • Detection of Gilbert syndrome mutation ((TA) repeats in the UGT1A1 gene)

    Gilbert or benign hyperbilirubinemia (nonhemolytic hyperbilirubinemia, unconjugated hyperbilirubinemia) is caused by changed number of the (TA) repeats in the promoter reagion of the UGT1A1 gene. Given mutation should be detected before treatment with irinotecan is started.

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  • Detection of Hereditary hemochromatosis mutations C282Y and H63D (HFE gene)

    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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  • Detection of Wilson's disease mutation H1069Q (ATP7B gene)

    Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in liver and brain. Wilson’s disease is due to mutations of the ATP7B gene on chromosome 13 which encodes a copper-transporting P-type ATPase (ATP7B) residing in the trans-Golgi network of hepatocytes. Wilson’s disease is a genetic disorder that is found worldwide. Wilson’s disease is recognized to be more common than previously thought, with a gene frequency of 1 in 90–150 and an incidence (based on adults presenting with neurologic symptoms) that may be as high as 1 in 30,000. More than 500 distinct mutations have been described in the Wilson gene, from which 380 have a confirmed role in the pathogenesis of the disease, most common in the Central Europe is H1069Q (EASL guidelines, 2012) .

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  • DNA isolation

    Isolation of DNA is often an early step in many diagnostic processes used to diagnose genetic disorders. DNA could be extracted from tissue, dried blood spots, formalin-fixed and paraffin-embedded tissue, bacteria cultures etc.

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  • PCR reaction

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

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  • Sanger sequencing

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

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  • Thrombophilia panel

    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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