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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    que pode ser hereditária idiopática ou secundária a outras condições médicas As formas hereditárias da doença são causadas por mutações no gene BMPR2 ou mais raramente nos genes ALK1 e ENG Genes estudados Pesquisa de mutações nos genes BMPR2 ACVRL1 ALK1 Aplicação Clínica As mutações do gene BMPR2 são encontradas em cerca de 70 dos casos de hipertenção arterial pulmonar hereditária e em cerca de 20 dos casos de hipertensão

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=17 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    observed in individuals presenting lung cancer These mutations normally appear in patients with non small cell lung cancer EFGR tyrosine kinase inhibitors erlotinib and gefitinib are used in the treatment of lung cancer Recent studies have shown that patients with mutations in the gene EGFR punctual or amplified respond better to these drugs Test indications Individuals presenting non small cell lung cancer Methodology Scan for mutations and amplification of EGFR

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=10 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    HDGC Gastric illness Genotyping Helicobacter pylori Stomach Cancer Genotyping pro inflammatory polym Crohn s Disease Hemocromatose Gynaecology HPV Endocrinologia Diabetes Tipo MODY Polipose Adenomatosa Familiar Resumo De todas as neoplasias malignas o carcinoma coloretal tem a maior proporção de casos familiares cerca de 30 Cerca de 5 são associados com mutações de alta penetrância e ocorrem em síndromes hereditários bem definidos que incluem o síndrome de Lynch a polipose adenomatosa familiar e a polipose juvenil A polipose adenomatose familiar resulta de mutações germinais no gene APC 70 90 dos casos Em situações de fenótipo atenuado são encontardas mutações do gene APC em cerca de 10 dos casos e do gene MUTYH são encontradas mutações bi alélicas em 25 dos casos Para o gene MUTYH as mutações Y165C e G382D correspodem a 82 das mutações Genes estudados APC e MUTYH Metodologia A pesquisa de mutações germinativas é realizada em DNA geómico dos respetivos probandos por PCR simples ou em multiplex com primers flanqueadores específicos para cada um dos exões codificantes de cada gene Amostra A análise é feita a partir de sangue periférico 5ml colhido para tubo de plástico com EDTA que deve chegar ao laboratório num prazo máximo de 72

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=19 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    MSH2 MLH1 and MSH6 HNPCC families show increased cancer incidence in diverse bodily organs namely the colon the endometrium the ovaries the stomach and the bile ducts One of the molecular characteristics in individuals presenting HNPCC is the presence of microsatellite instability in tumours The detection of microsatellite instability in tumours of families who suspect HNPCC increases the probability of carrier detection of germline mutations in DNA repair genes Insofar as this is true analysis of microsatellite instability in the neoplastic tissue of suspected HNPCC patients is a good scanning method and should be carried out on any suspected patient of HNPCC in such a way as to indicate or exclude genetic counselling and diagnosis for the patient In sporadic colorectal cancer detection of microsatellite instability signifies both prognosis and therapy Tumours with this type of molecular phenotype present cisplatin resistance and methylating agents and increased susceptibility to the drug 5 fluorouracil Studied genes MSH2 MLH1 MSH6 DNA repair genes Test indications Cancer patients who meet Bethesda criteria for example first or second degree family members who present at least 3 cases of HNPCC tumour type cancer in their family and or cancer patients of a young age and patients

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=11 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    suppressor gene CDH1 which encode the cell adhesion molecule Cadherin E increase gastric cancer predisposition of the diffuse type and lobular breast cancer In families who present germline mutations of the gene CDH1 HDGC syndrome a high incidence of these cancers are noted namely diffuse stomach cancer which typically occur in young individuals less than 45 years of age The detection of gene mutation CDH1 in families with history of HDGC Syndrome pinpoints individuals who are at higher risk of contracting diffuse stomach cancer Studied genes CDH1 Cadherin E Test indications Cancer patients and those who present family history of HDGC Syndrome and family members of HDGC patients with identified mutations can be considered for gene mutation CDH1 analysis following genetic consultation Methodology Analysis for Exons 1 16 in intronic and flanking regions of the gene CDH1 Sample The analysis is carried out from a peripheral blood sample 5ml collected into a plastic EDTA tube which should arrive at the laboratory within 72 hours In cases where collection of peripheral blood is not possible analysis may be performed through formalin fixed paraffin embedded biological samples Limitations Laboratorial methods do not detect gene mutation in intronic and non flanking regions or

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=12 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    risk of developing stomach cancer In spite of this progression to stomach cancer occurs in only a small portion of infected individuals and depends on factors concerning both bacteria and the host Taking into consideration that the inflammatory process holds a significant role in gastric carcinogenesis polymorphisms in genes involved in the immunological response may explain the development of cancer in some individuals infected with H pylori It has been demonstrated that some strains of H pylori namely strains with vacAs1 vacAm1 and cagA genotypes increase the risk of developing stomach cancer Studied genes H pylori genes vacAs1 vacAm1 e cagA Test advantages Allows identification of individuals who are at risk of developing stomach cancer and assists patient s proper accompaniment and prognosis Test indications Through medical indication Individuals with family history of stomach cancer Individuals who have previously attempted unsuccessfully to eradicate the infection Individuals with functional dyspepsia Methodology H pylori detection and genotyping of virulence factors vacAs vacAm and cagA by PCR Polymerase Chain Reaction Sample Detection and genotyping of H pylori biopsy or frozen formalin fixed surgical gastric specimen Alternative formalin fixed paraffin embedded biological material Genotyping of pro inflammatory polymorphisms peripheral blood sample 5ml collected into

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=13 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    Disease Summary Carriers of the gene polymorphism NOD2 in the majority of cases R702W G908R and 1007fs are at high risk of developing Crohn s Disease Besides the elevated risk factor Crohn s patients who present risk polymorphisms in the NOD2 gene demonstrate specific clinical characteristics e g appearance of the disease at an earlier age more likely to have ileal localization and stenosing pattern This phenotype leads to a clinical prognosis which is of higher gravity Studied genes Polymorphisms in the gene CARD15 NOD2 Test advantages Identifies individuals with higher development risk of Crohn s Disease Defines prognosis in individuals who have the disease Test indications Individuals with family history in Crohn s Disease Individuals with Crohn s Disease Individuals with inflammatory bowel disease who present no definitive clinical diagnosis Methodology Analysis of common polymorphisms genotyping of the polymorphisms R702W G908R and 1007fs of the CARD15 NOD2 gene Analysis of the coding region Analysis of the 12 exons which constitute the NOD2 gene Sample The analysis is carried out from a peripheral blood sample 5ml collected into a plastic EDTA tube which should arrive at the laboratory within 72 hours Limitations Used laboratorial methods do not allow detection of

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=14 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Recieving The Saliva Test Kit
    consequente acumulação em vários orgãos provocando sérios danos tais como cirrose hepática carcinoma hepatocelular cardiomiopatias diabetes ou outros problemas a nível endócrino O gene HFE que regula a absorção de ferro é o principal gene associado à patologia Duas mutações nesse gene foram descritas e são responsáveis pela maioria dos casos de hemocromatose hereditária C282Y e a H63D Ganes estudados Gene HFE Indicações para teste O teste genético de mutações

    Original URL path: http://www.genetest.pt/index.php?id=186&testid=18 (2016-02-18)
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