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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    in their blood These individuals present a higher risk factor for atherosclerosis coronary disease and premature death Familial hypercholesterolemia may be caused by mutations in at least three different genes LDLR APOB and PCSK9 The gene mutations LDLR are responsible for 85 of cases and the gene mutations APOB and PCSK9 are responsible for 5 of cases In about 10 of these cases the responsible gene has not yet been identified Studied genes LDLR Low density Lipoprotein Receptor LDL APOB Apolipoprotein B PSCK9 The importance of genetic testing in such cases Early diagnosis is fundamental for the prevention of this disease insofar as it can prevent atherosclerosis in the child Ready therapy exists and consists of lifestyle changes and drug use which lower cholesterol levels statins Application of clinical criteria lipid levels family history and symptoms without resorting to genetic diagnosis leads to a wrong diagnosis in approximately 25 of cases This given genetic diagnosis represents a fundamental tool Genetic screening is recommended by various international organisations like for example the European Atherosclerosis Society The importance of genetic testing in such cases Early diagnosis is fundamental for the prevention of this disease insofar as it can prevent the atherosclerosis process which develops early on in children Ready therapy exists and consists of lifestyle changes and drug use which lowers cholesterol levels statins It is absolutely essential that therapy be initiated as soon as possible Application of clinical criteria lipid levels family history and symptoms without resorting to genetic diagnosis leads to a wrong diagnosis in approximately 25 of cases This given genetic diagnosis represents a fundamental tool Genetic screening is recommended by various international organisations like for example the European Atherosclerosis Society Test indications Following medical indication Individuals with clinical suspicion of familial hypercholesterolemia First degree family members of individuals

    Original URL path: http://www.genetest.pt/index.php?id=187&testid=6 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    breathing and sudden death Symptoms generally appear in adulthood and cases of sudden death usually appear around the age of 40 This disease is transmitted by way of dominant inheritance which means that in the case of a mutation carrier who does not yet present symptoms the probability that the gene be transmitted to his her descendants is of 50 This condition is noted in 1 out of every 500 people Risk factors Prior history of syncope of an undetermined nature or ventricular fibrillation of an undetermined nature Studied genes SCN5A sodium channel alpha subunit The importance of genetic testing in such cases Genetic diagnosis is fundamental to genetic counselling Insofar as a cardioverter defibrillator implant is the most efficient form of therapy available and the fact that anti arrhythmia drugs do not protect against cases of sudden death it is of paramount importance that early and precise diagnosis be carried out Test indications Following medical indication Individuals with clinical suspicion or diagnosis of Brugada Syndrome First degree family members of individuals with genetic diagnosis of Brugada Syndrome Methodology The analysis is carried out from a peripheral blood sample 5ml collected into a plastic EDTA tube which should arrive at

    Original URL path: http://www.genetest.pt/index.php?id=187&testid=7 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    of syncope or ventricular arrhythmia Studied genes KVLQT1 LQT1 potassium channel alpha subunit incidence rate 30 35 HERG LQT2 potassium channel alpha subunit incidence rate 30 35 SCN5A LQT3 sodium channel alpha subunit incidence rate 5 10 The importance of genetic testing in such cases Diagnostic precision in individuals presenting prolonged QT intervals which were evaluated following episodes of syncope or diagnosed family episodes or individuals with asymptomatic SQTL or recurring syncopes accurate prognosis and ample choice of the most adequate treatment according to genotopic variants cardiac events which are caused by physical activity LQT1 particularly swimming emotional stress LQT2 sleep or periods of inactivity LQT3 In the cases of LQT1 and LQT2 beta blockers are especially effective at this time the benefits of beta blockers in cases of LTQ3 are uncertain and treatment options using sodium channel blockers are advisable JAMA 2005 Vol 294 No 23 Test indications Following medical indication Family members of young individuals victims of sudden death Individuals with clinical suspicion or diagnosis of Long QT First degree family members of individuals with genetic diagnosis of Long QT Methodology The analysis is carried out from a peripheral blood sample 5ml collected into a plastic EDTA tube

    Original URL path: http://www.genetest.pt/index.php?id=187&testid=8 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    heart valves and dilated aortas The most significant life threatening cardiovascular complications include aortic aneurysms and aortic dissections This disorder affects approximately 1 out of every 5000 individuals Studied genes FNB1 fibrillin 1 Classic Marfan Syndrome is caused by mutations in the gene FBN1 fibrillin 1 These mutations can be found in 90 of the individuals which present diagnosable symptoms Alternatively mutations in the genes TGFBR2 and TGFBR1 have been observed in these patients In cases presenting mutations of these genes the clinical profile may differ and includes Marfan Syndrome type II and Loeys Dietz Syndrome aortic aneurism The importance of genetic testing in such cases Though there is no available cure for this disease correct medical accompaniment can significantly improve prognosis and average life expectancy In such a way genetic diagnosis can be fundamental for early and precise diagnosis Today criteria for diagnosis include scanning for genetic mutations Test indications Following medical indication Individuals with clinical suspicion or diagnosis of Marfan Syndrome First degree family members of individuals with genetic diagnosis of Marfan Syndrome Methodology The analysis is carried out from a peripheral blood sample 5ml collected into a plastic EDTA tube which should arrive at the laboratory within

    Original URL path: http://www.genetest.pt/index.php?id=187&testid=9 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    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=187&testid=17 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    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=187&testid=10 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    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=187&testid=19 (2016-02-18)
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  • Testes Genéticos - Genetest - Testes Genéticos - Kit Contents
    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=187&testid=11 (2016-02-18)
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