Genomics|Genetic Testing|Guidelines: Specific Conditions

Genomics|Genetic Testing|Guidelines

Specific Conditions

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