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GUÍAS Y RECOMENDACIONES EN PRUEBAS GENÉTICAS ► Genomics|Genetic Testing|Guidelines [idioma inglés únicamente]

Genomics|Genetic Testing|Guidelines

Guidelines & Recommendations



Genetic Testing

Guidelines, Policies and Recommendations in Genomics

We provide on an ongoing basis an updated list of guidelines, policies and recommendations  on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.  The list is arranged by topics, year of publication and recommending organization. The list may not include all relevant recommendations. The listing of the recommendations should not be construed as an endorsement by CDC. 

Cancer



GuidelineOrganizationPublished
Referral indications for cancer predisposition assessmentExternal Web Site IconAmerican College of Medical Genetics and Genomics,External Web Site Icon National Society of Genetic CounselorsExternal Web Site Icon2015
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice GuidelinesExternal Web Site IconAmerican Society of Clinical Oncology,External Web Site IconEuropean Society for Medical OncologyExternal Web Site Icon2015
Genetic testing and management of individuals genetically at-risk of cutaneous melanomaExternal Web Site IconExpert group2015
Lynch syndrome: A primer for urologists and panel recommendationsExternal Web Site IconExpert group2015
Updated UK Recommendations for HER2 assessment in breast cancerExternal Web Site IconNational Coordinating Committee for Breast PathologyExternal Web Site Icon2015
Biomarker testing in colorectal carcinoma - updateExternal Web Site IconSpanish Society of Pathology, Spanish Society of Medical Oncology2015
Endometrial cancer: a review and current management strategies: part IExternal Web Site IconSociety of Gynecologic Oncology Clinical Practice CommitteeExternal Web Site Icon2014
Genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).External Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2014
Collection and use of a cancer family history for oncology providersExternal Web Site IconAmerican Society of Clinical OncologyExternal Web Site Icon2014
Disease management for patients with advanced human epidermal growth factor receptor 2-positive breast cancer and brain metastasesExternal Web Site IconAmerican Society of Clinical OncologyExternal Web Site Icon2014
Systemic therapy for patients with advanced human epidermal growth factor receptor 2-positive breast cancerExternal Web Site IconAmerican Society of Clinical OncologyExternal Web Site Icon2014
Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/InternatExternal Web Site IconAmerican Society of Clinical OncologyExternal Web Site Icon2014
Human epidermal growth factor receptor 2 testing in breast cancerExternal Web Site IconAmerican Society of Clinical Oncology,External Web Site IconCollege of American PathologistsExternal Web Site Icon2014
RAS testing of colorectal carcinomaExternal Web Site IconAssociation of Clinical Pathologists Molecular Pathology and Diagnostics GroupExternal Web Site Icon2014
Testing of ALK Gene Rearrangement in Lung CancerExternal Web Site IconCardiopulmonary Pathology Study Group of the Korean Society of PathologistsExternal Web Site Icon2014
Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers - 2014 updateExternal Web Site IconEuropean Group on Tumor MarkersExternal Web Site Icon2014
Guidance for laboratories performing molecular pathology for cancer patientsExternal Web Site IconEuropean Society of Pathology Task Force on Quality Assurance in Molecular PathologyExternal Web Site Icon2014
Does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?External Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2014
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing eraExternal Web Site IconExpert group2014
Managing children with chronic myeloid leukaemia (CML): recommendations for the management of CML in children and young people up to the age of 18 yearsExternal Web Site IconInternational BFM Group (iBFM) Study Group Chronic Myeloid Leukaemia CommitteeExternal Web Site Icon2014
Diagnosis and management of hereditary colorectal cancer - summarized from JSCCR Guidelines 2012 for the Clinical Practice of Hereditary Colorectal CancerExternal Web Site IconJapanese Society for Cancer of the Colon and RectumExternal Web Site Icon2014
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014External Web Site IconNational Comprehensive Cancer NetworkExternal Web Site Icon2014
Diagnosis, treatment and follow-up of hairy cell leukaemiaExternal Web Site IconSFH (French Society of Haematology)External Web Site Icon2014
Guidelines for biomarker testing in metastatic melanoma: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.External Web Site IconSpanish Society of Pathology, Spanish Society of Medical Oncology2014
Erlotinib for the first-line treatment of metastatic non-small cell lung cancer with epidermal growth factor receptor exon 19 deletions or exon 21 (L858R) substitution mutationsExternal Web Site IconUS Food and Drug AdministrationExternal Web Site Icon2014
FDA approval summary: vemurafenib for treatment of unresectable or metastatic melanoma with the BRAFV600E mutationExternal Web Site IconUS Food and Drug AdministrationExternal Web Site Icon2014
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancerExternal Web Site IconUS Multi-society Task Force on colorectal cancer2014
Summaries for patients: assessing the genetic risk for BRCA-related breast or ovarian cancer in womenExternal Web Site IconUS Preventive Services Task ForceExternal Web Site Icon2014
American College of Medical Genetics and Genomics technical standards and guidelines: Microarray analysis for chromosome abnormalities in neoplastic disordersExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Use of pharmacologic interventions for breast cancer risk reduction: American Society of Clinical Oncology clinical practice guideline.External Web Site IconAmerican Society of Clinical OncologyExternal Web Site Icon2013
Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular PathologyExternal Web Site IconAssociation for Molecular PathologyExternal Web Site Icon2013
Evaluation of clinical validity and utility of actionable molecular diagnostic tests in adult oncology External Web Site IconCenter for Medical Technology PolicyExternal Web Site Icon2013
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular PathologyExternal Web Site IconCollege of American Pathologists,External Web Site IconInternational Association for the Study of Lung Cancer,External Web Site Icon Association for Molecular PathologyExternal Web Site Icon2013
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticistsExternal Web Site IconDutch Society for Clinical Genetics2013
Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?External Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2013
Canadian guideline on genetic screening for hereditary renal cell cancersExternal Web Site IconKidney Cancer Research Network of Canada Genetics InitiativeExternal Web Site Icon2013
EGFR Mutation Testing in Lung CancerExternal Web Site IconKorean Cardiopulmonary Pathology Study Group2013
Clinical management of Lynch syndrome (HNPCC)External Web Site IconMallorca GroupExternal Web Site Icon2013
EGFR-TK mutation testing in adults with locally advanced or metastatic non-small-cell lung cancerExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Everolimus in combination with exemestane for treating advanced HER2-negative hormone-receptor-positive breast cancer after endocrine therapyExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancerExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Familial breast cancer: summary of updated NICE guidanceExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and MammostratExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Intraoperative tests (RD-100i OSNA system and Metasin test) for detecting sentinel lymph node metastases in breast cancerExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Vemurafenib for treating locally advanced or metastatic BRAF V600 mutation-positive malignant melanomaExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Risk assessment and genetic counseling for hereditary breast and ovarian cancerExternal Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2013
Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2013External Web Site IconSt Gallen International Breast Cancer Conference (2013) Expert PanelExternal Web Site Icon2013
BRAF mutation testing algorithm for vemurafenib treatment in melanomaExternal Web Site IconUK Expert Panel2013
BRCA-related Cancer: Risk Assessment, Genetic Counseling and Genetic TestingExternal Web Site IconUS Preventive Services Task ForceExternal Web Site Icon2013
Breast Cancer: Medications for Risk ReductionExternal Web Site IconUS Preventive Services Task ForceExternal Web Site Icon2013
Lung Cancer: ScreeningExternal Web Site IconUS Preventive Services Task ForceExternal Web Site Icon2013
Levels of evidence and clinical utility of prognostic and predictive candidate brain tumor biomarkersExternal Web Site IconVienna Comprehensive Cancer Center Central Nervous System Unit, Neurooncology Taskforce2013
Management of patients with colon and rectal cancerExternal Web Site IconEuropean Society for Medical OncologyExternal Web Site Icon2012
Biomarker testing in colorectal carcinoma External Web Site IconSpanish Society of Pathology, Spanish Society of Medical Oncology2012
UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumourExternal Web Site IconUnited Kingdom National External Quality Assessment ServiceExternal Web Site Icon2012
Screening for ovarian cancerExternal Web Site IconUS Preventive Services Task ForceExternal Web Site Icon2012
Can tumor gene expression profiling improve outcomes in patients with breast cancer?External Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2009
Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relativesExternal Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2009
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsExternal Web Site IconInternational Agency for Research on Cancer (IARC) Unclassified Genetic Variants Working GroupExternal Web Site Icon2008
Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?External Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2009

Cardiovascular Disease



GuidelineOrganizationPublished
Diagnosis and treatment of familial hypercholesterolemia in SpainExternal Web Site IconConsensus conference2015
Management of patients with familial hypercholesterolemiaExternal Web Site IconExpert group2015
Guidelines for the primary prevention of stroke: a statement for healthcare professionalsExternal Web Site IconAmerican Heart Association,External Web Site IconAmerican Stroke AssociationExternal Web Site Icon2014
Management of thoracic aortic diseaseExternal Web Site IconCanadian Cardiovascular SocietyExternal Web Site Icon2014
Homozygous familial hypercholesterolaemia: detection and managementExternal Web Site IconConsensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis SocietyExternal Web Site Icon2014
Care of familial hypercholesterolaemia External Web Site IconInternational FH FoundationExternal Web Site Icon2014
Management of familial hypercholesterolemia in children and adolescentsExternal Web Site IconPolish Lipid Expert Forum2014
Familial hypercholesterolaemia - quality standardExternal Web Site IconNational Institute for Health and Care ExcellenceExternal Web Site Icon2013
Diagnostic and treatment of familial hypercholesterolemia (FH) in adultExternal Web Site IconNew French Society of Atherosclerosis 2013
Management of familial heterozygous hypercholesterolemiaExternal Web Site IconPolish Lipid Expert Forum2013
Genetics and cardiovascular disease: a policy statement from the American Heart AssociationExternal Web Site IconAmerican Heart AssociationExternal Web Site Icon2012
Evaluation and treatment of hypertriglyceridemiaExternal Web Site IconEndocrine SocietyExternal Web Site Icon2012
Genomic profiling to assess cardiovascular risk to improve cardiovascular healthExternal Web Site IconEvaluation of Genomic Applications in Practice and Prevention2010

General



GuidelineOrganizationPublished
Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencingExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2015
Interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyExternal Web Site IconAmerican College of Medical Genetics and Genomics,External Web Site IconAssociation for Molecular PathologyExternal Web Site Icon2015
Genetic screening in the workplaceExternal Web Site IconAmerican College of Occupational and Environmental MedicineExternal Web Site Icon2015
Laboratory standards for next-generation sequencing clinical testsExternal Web Site IconCollege of American PathologistsExternal Web Site Icon2015
Informed consent for biobankingExternal Web Site IconConsensus conference2015
Position of the Academy of Nutrition and Dietetics: Nutritional genomicsExternal Web Site IconAcademy of Nutrition and DieteticsExternal Web Site Icon2014
Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight BoardExternal Web Site IconBoston Children's Hospital Gene Partnership Informed Cohort Oversight Board2014
Prioritizing clinical genetic testing servicesExternal Web Site IconConsensus conference2014
Reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)External Web Site IconEuropean Society of Human Genetics Genetic Services Quality CommitteeExternal Web Site Icon2014
Design, analysis and interpretation of 'omics' data: focus on human endometriumExternal Web Site IconExpert group2014
Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contextsExternal Web Site IconPresidential Commission for the Study of Bioethical IssuesExternal Web Site Icon2014
Ethical and policy issues in genetic testing and screening of childrenExternal Web Site IconAmerican Academy of Pediatrics,External Web Site Icon American College of Medical Genetics and GenomicsExternal Web Site Icon2013
Clinical laboratory standards for next-generation sequencingExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Incidental findings in clinical genomics: a clarificationExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Reporting of incidental findings in clinical exome and genome sequencingExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Risk categorization for oversight of laboratory-developed tests for inherited conditionsExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Early detection of prostate cancerExternal Web Site IconAmerican Urological AssociationExternal Web Site Icon2013
Establishment of core competencies for canadian genetic counsellors: validation of practice based competenciesExternal Web Site IconCanadian Association of Genetic Counsellors External Web Site Icon2013
Use of next-generation sequencing applications in genome diagnosticsExternal Web Site IconDutch Society for Clinical Genetic Laboratory Diagnostics2013
Direct-to-consumer genetic testing for health-related purposesExternal Web Site IconEuropean Academies of Science Advisory Council,External Web Site Icon Federation of European Academies of MedicineExternal Web Site Icon2013
Whole-genome sequencing in health careExternal Web Site IconEuropean Society of Human GeneticsExternal Web Site Icon2013
Criteria for the use of omics-based predictors in clinical trials: explanation and elaborationExternal Web Site IconExpert group2013
Informed consent for whole-genome sequencing studies in the clinical settingExternal Web Site IconExpert group2013
Stem cell research and therapyExternal Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2013
Direct-to-consumer genetic testingExternal Web Site IconSouthern African Society for Human Genetics External Web Site Icon2013
Quality in genetic counselling for presymptomatic testingExternal Web Site IconUK expert group2013
Personalized genomic testing for disease riskExternal Web Site IconAmerican College of Obstetricians and GynecologistsExternal Web Site Icon2012
Clinical diagnostic genome sequencingExternal Web Site IconAssociation for Molecular PathologyExternal Web Site Icon2012
Direct-to-consumer genetic testing for health-related purposes in the European UnionExternal Web Site IconEuropean Academies Scientific Advisory CouncilExternal Web Site Icon2012

Newborn Screening



GuidelineOrganizationPublished
Newborn screening and the role of the obstetrician-gynecologistExternal Web Site IconAmerican College of Obstetricians and GynecologistsExternal Web Site Icon2015
Whole-genome sequencing in newborn screeningExternal Web Site IconEuropean Society of Human Genetics,External Web Site Icon P3G International Paediatric Platform,External Web Site Icon Human Genome Organisation,External Web Site Icon PHG FoundationExternal Web Site Icon2015
Appropriateness of newborn screening for α1-antitrypsin deficiencyExternal Web Site IconAlpha-1 FoundationExternal Web Site Icon2014
Parental permission for pilot newborn screening researchExternal Web Site IconBioethics and Legal Work Group of the Newborn Screening Translational Research NetworkExternal Web Site Icon2014
Framework to start the debate on neonatal screening policies in the EUExternal Web Site IconExpert group2014
Newborn screening: education, consent, and the residual blood spotExternal Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2014
Including the initial newborn screening bloodspot collection device serial number on birth certificatesExternal Web Site IconSecretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and ChildrenExternal Web Site Icon2013
Assessing and improving the methodological quality of economic evaluations of newborn screeningExternal Web Site IconExpert group2012

Pharmacogenomics



GuidelineOrganizationPublished
HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactionsExternal Web Site IconCanadian Pharmacogenomics Network for Drug Safety Clinical Recommendation GroupExternal Web Site Icon2014
CYP2C9 and HLA-B genotypes and phenytoin dosingExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
Cytochrome P450 2D6 genotype and codeine therapy - 2014 updateExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
HLA-B Genotype and Abacavir Dosing - 2014 updateExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
IFNL3 (IL28B) genotype and PEG interferon-α-based regimensExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development processExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
Ivacaftor therapy in the context of CFTR genotypeExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
Rasburicase therapy in the context of G6PD deficiency genotypeExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
SLCO1B1 and simvastatin-induced myopathy - 2014 updateExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2014
Testing and clinical management issues associated with HLA and non-HLA antibodies in transplantationExternal Web Site IconAustralian expert panel2013
CYP2D6 genotyping for safe and efficacious codeine therapyExternal Web Site IconCanadian Pharmacogenomics Network for Drug Safety Clinical Recommendation GroupExternal Web Site Icon2013
CYP2C19 genotype and clopidogrel therapy - 2013 updateExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2013
CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressantsExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2013
Dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosingExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2013
HLA-B genotype and carbamazepine dosingExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2013
Human leukocyte antigen-B genotype and allopurinol dosingExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2013
Thiopurine methyltransferase genotype and thiopurine dosing - 2013 updateExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2013
SLCO1B1 and simvastatin-induced myopathyExternal Web Site IconClinical Pharmacogenetics Implementation ConsortiumExternal Web Site Icon2012
Testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitorsExternal Web Site IconEvaluation of Genomic Applications in Practice and PreventionExternal Web Site Icon2007

Prenatal Testing



GuidelineOrganizationPublished
Carrier screening in reproductive medicineExternal Web Site IconAmerican College of Medical Genetics and Genomics,External Web Site IconAmerican College of Obstetricians and Gynecologists,External Web Site Icon National Society of Genetic Counselors,External Web Site IconPerinatal Quality Foundation,External Web Site IconSociety for Maternal-Fetal MedicineExternal Web Site Icon2015
Offering prenatal diagnostic testsExternal Web Site Icon Expert group  2013
Noninvasive prenatal screening for fetal aneuploidyExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Prenatal/preconception expanded carrier screeningExternal Web Site IconAmerican College of Medical Genetics and GenomicsExternal Web Site Icon2013
Medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyExternal Web Site IconEuropean Society of Human Genetics, European Society of Human Reproduction and Embryology, European Union Eurogentest2 Coordination Action Project2013
Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencingExternal Web Site IconItalian College of Fetal Maternal Medicine2013
Noninvasive prenatal testing/noninvasive prenatal diagnosisExternal Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2013
Prenatal screening and diagnostic testing options for chromosome aneuploidyExternal Web Site IconNational Society of Genetic CounselorsExternal Web Site Icon2013
Organization of a PGD centre for PGD/preimplantation genetic screeningExternal Web Site IconEuropean Society for Human Reproduction and Embryology (ESHRE) PGD ConsortiumExternal Web Site Icon2011

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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