Guideline | Organization | Published |
Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes | American College of Gastroenterology | 2015 |
Molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies | European Molecular Genetics Quality Network | 2015 |
Molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders | European Molecular Genetics Quality Network | 2015 |
Managing adults with 22q11.2 deletion syndrome | Expert group | 2015 |
Genetic diagnosis of familial Mediterranean fever | Single Hub and Access point for pediatric Rheumatology in Europe | 2015 |
Diagnostic genetic testing for Huntington's disease | Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network | 2015 |
Clinical evaluation and etiologic diagnosis of hearing loss | American College of Medical Genetics and Genomics | 2014 |
Diagnosis and management of glycogen storage disease type I | American College of Medical Genetics and Genomics | 2014 |
Phenylalanine hydroxylase deficiency: diagnosis and management | American College of Medical Genetics and Genomics | 2014 |
Diagnosis and management of beryllium sensitivity and chronic beryllium disease | American Thoracic Society | 2014 |
Diagnosis and management of adult coeliac disease | British Society of Gastroenterology | 2014 |
Diagnosis and management of autosomal recessive polycystic kidney disease | Consensus conference | 2014 |
Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease | ECD Global Alliance, Consensus conference | 2014 |
Molecular diagnosis of Y-chromosomal microdeletions | European Academy of Andrology, European Molecular Genetics Quality Network | 2014 |
Diagnosis and management of chronic ataxias in adulthood | European Federation of Neurological Societies, European Neurological Society | 2014 |
The polycystic ovary syndrome: a position statement | European Society of Endocrinology | 2014 |
Diagnosis and treatment of Hunter Syndrome for clinicians in Latin America | Expert group | 2014 |
Management of sickle cell disease | Expert group | 2014 |
Diagnosis and Treatment of Dementia: recommendations for family physicians | Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia | 2014 |
Nutrition management of phenylalanine hydroxylase deficiency | Genetic Metabolic Dietitians International, Southeast Regional Genetics Collaborative,and Diet Control and Management and Maternal PKU Workgroups from the National Institutes of Health Phenylketonuria Scientific Review Conference | 2014 |
Nutrition management guideline for maple syrup urine disease | Genetic Metabolic Dietitians International, Southeast Regional Newborn Screening and Genetics Collaborative | 2014 |
Diagnosis and treatment of limb-girdle and distal dystrophies | Guideline Development Subcommittee of the American Academy of Neurology,Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine | 2014 |
Population-based carrier screening for cystic fibrosis | Human Genetics Society of Australasia | 2014 |
Primary immunodeficiency diseases: an update on the classification | International Union of Immunological Societies Expert Committee for Primary Immunodeficiency | 2014 |
Diagnosis and management of mitochondrial disease | Mitochondrial Medicine Society | 2014 |
Molecular testing for cystic fibrosis carrier status | National Society of Genetic Counselors | 2014 |
Management of autosomal dominant polycystic kidney disease | Spanish Working Group on Inherited Kidney Disease | 2014 |
Diagnosis and management of hypertrophic cardiomyopathy | Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology | 2014 |
Diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult | Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology | 2014 |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions | American College of Medical Genetics and Genomics | 2013 |
Lack of evidence for MTHFR polymorphism testing | American College of Medical Genetics and Genomics | 2013 |
Standards and Guidelines for fragile X testing | American College of Medical Genetics and Genomics | 2013 |
Practical management of Familial Mediterranean Fever | Consensus conference | 2013 |
Diagnosis and treatment of polycystic ovary syndrome | Endocrine Society | 2013 |
Genomic profiling to assess type 2 diabetes risk | Evaluation of Genomic Applications in Practice and Prevention | 2013 |
Fabry disease | National Society of Genetic Counselors | 2013 |
Genetic testing of inherited eye diseases | American Academy of Ophthalmology | 2012 |
Genetic counseling and testing for Alzheimer disease | American College of Medical Genetics and Genomics,National Society of Genetic Counselors | 2011 |
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 members | Evaluation of Genomic Applications in Practice and Prevention | 2011 |
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