domingo, 26 de julio de 2015

Genomics|Genetic Testing|Guidelines: Specific Conditions

Genomics|Genetic Testing|Guidelines

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Specific Conditions



GuidelineOrganizationPublished
Genetic Testing and Management of Hereditary Gastrointestinal Cancer SyndromesExternal Web Site IconAmerican College of GastroenterologyExternal Web Site Icon2015
Molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathiesExternal Web Site IconEuropean Molecular Genetics Quality NetworkExternal Web Site Icon2015
Molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersExternal Web Site IconEuropean Molecular Genetics Quality NetworkExternal Web Site Icon2015
Managing adults with 22q11.2 deletion syndromeExternal Web Site IconExpert group2015
Genetic diagnosis of familial Mediterranean feverExternal Web Site IconSingle Hub and Access point for pediatric Rheumatology in Europe2015
Diagnostic genetic testing for Huntington's diseaseExternal Web Site IconWorking Group on Genetic Counselling and Testing of the European Huntington's Disease Network External Web Site Icon2015
Clinical evaluation and etiologic diagnosis of hearing lossExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2014
Diagnosis and management of glycogen storage disease type IExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2014
Phenylalanine hydroxylase deficiency: diagnosis and management External Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2014
Diagnosis and management of beryllium sensitivity and chronic beryllium diseaseExternal Web Site IconAmerican Thoracic SocietyExternal Web Site Icon2014
Diagnosis and management of adult coeliac diseaseExternal Web Site IconBritish Society of GastroenterologyExternal Web Site Icon2014
Diagnosis and management of autosomal recessive polycystic kidney diseaseExternal Web Site IconConsensus conference2014
Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester diseaseExternal Web Site IconECD Global Alliance,External Web Site Icon Consensus conference2014
Molecular diagnosis of Y-chromosomal microdeletionsExternal Web Site IconEuropean Academy of Andrology,External Web Site Icon European Molecular Genetics Quality NetworkExternal Web Site Icon2014
Diagnosis and management of chronic ataxias in adulthoodExternal Web Site IconEuropean Federation of Neurological Societies, European Neurological SocietyExternal Web Site Icon2014
The polycystic ovary syndrome: a position statementExternal Web Site IconEuropean Society of EndocrinologyExternal Web Site Icon2014
Diagnosis and treatment of Hunter Syndrome for clinicians in Latin AmericaExternal Web Site IconExpert group2014
Management of sickle cell diseaseExternal Web Site IconExpert group2014
Diagnosis and Treatment of Dementia: recommendations for family physiciansExternal Web Site IconFourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia2014
Nutrition management of phenylalanine hydroxylase deficiencyExternal Web Site IconGenetic Metabolic Dietitians International,External Web Site Icon Southeast Regional Genetics Collaborative,External Web Site Iconand Diet Control and Management and Maternal PKU Workgroups from the National Institutes of Health Phenylketonuria Scientific Review ConferenceExternal Web Site Icon2014
Nutrition management guideline for maple syrup urine diseaseExternal Web Site IconGenetic Metabolic Dietitians International,External Web Site Icon Southeast Regional Newborn Screening and Genetics CollaborativeExternal Web Site Icon2014
Diagnosis and treatment of limb-girdle and distal dystrophiesExternal Web Site IconGuideline Development Subcommittee of the American Academy of Neurology,External Web Site IconPractice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic MedicineExternal Web Site Icon2014
Population-based carrier screening for cystic fibrosisExternal Web Site IconHuman Genetics Society of AustralasiaExternal Web Site Icon2014
Primary immunodeficiency diseases: an update on the classification External Web Site IconInternational Union of Immunological Societies Expert Committee for Primary ImmunodeficiencyExternal Web Site Icon2014
Diagnosis and management of mitochondrial diseaseExternal Web Site IconMitochondrial Medicine SocietyExternal Web Site Icon2014
Molecular testing for cystic fibrosis carrier statusExternal Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2014
Management of autosomal dominant polycystic kidney diseaseExternal Web Site IconSpanish Working Group on Inherited Kidney DiseaseExternal Web Site Icon2014
Diagnosis and management of hypertrophic cardiomyopathyExternal Web Site IconTask Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of CardiologyExternal Web Site Icon2014
Diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adultExternal Web Site IconTask Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of CardiologyExternal Web Site Icon2014
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisionsExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Lack of evidence for MTHFR polymorphism testingExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Standards and Guidelines for fragile X testingExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Practical management of Familial Mediterranean FeverExternal Web Site IconConsensus conference2013
Diagnosis and treatment of polycystic ovary syndromeExternal Web Site IconEndocrine SocietyExternal Web Site Icon2013
Genomic profiling to assess type 2 diabetes riskExternal Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2013
Fabry diseaseExternal Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2013
Genetic testing of inherited eye diseasesExternal Web Site IconAmerican Academy of OphthalmologyExternal Web Site Icon2012
Genetic counseling and testing for Alzheimer diseaseExternal Web Site IconAmerican College of Medical Genetics and Genomics,External Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2011
Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family membersExternal Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2011

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