Practice Guidelines

346 position statements and practice guidelines from ACMG, NSGC, ACOG, and other organizations across 17 categories, relevant to genetic counseling and medical genetics board preparation.

346 guidelines

Neurology

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic CounselorsACMGNSGC

Neurology / Alzheimer Disease

Alzheimer Disease

Statement on use of apolipoprotein E testing for Alzheimer diseaseACMG

Neurology / Alzheimer Disease

Alzheimer Disease

European Academy of Neurology Guideline on the Management of Amyotrophic Lateral SclerosisOther

Neurology / Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndromeOther

Neurology / Angelman Syndrome

Angelman Syndrome

Ataxia-telangiectasia: recommendations for multidisciplinary treatmentOther

Neurology / Ataxia-Telangiectasia

Ataxia Telangiectasia

Clinical genetics evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisionsACMG

Neurology / Autism

Diagnosis and management of Becker muscular dystrophy: the French guidelinesOther

Neurology / Becker Muscular Dystrophy

Becker Muscular Dystrophy

Clinical Practice Guideline for the Management of Paediatric Charcot-Marie-Tooth DiseaseOther

Neurology / Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease Type 1a

International consensus on diagnosis and management of Dravet syndromeOther

Neurology / Dravet Syndrome

Scn1a Seizure Disorders

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional managementOther

Neurology / Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Genetic counseling for the dystrophinopathies: Practice resource of the NSGCNSGC

Neurology / Dystrophinopathies

Duchenne Muscular Dystrophy Becker Muscular Dystrophy

Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the NSGCNSGC

Neurology / Epilepsy

Scn1a Seizure Disorders Depdc5 Related Epilepsy Kcnq2 Related Disorders Pyridoxine Dependent Epilepsy

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophyOther

Neurology / Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy

Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature ReviewOther

Neurology / Familial Cerebral Cavernous Malformations

Familial Cerebral Cavernous Malformations

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendationsOther

Neurology / Familial Dysautonomia

Familial Dysautonomia

Fragile X syndrome: Diagnostic and carrier testingACMG

Neurology / Fragile X Syndrome

Fragile X Syndrome

Genetic counseling and testing for FMR1 gene mutations: Practice guidelines of the NSGCNSGC

Neurology / Fragile X Syndrome

Fragile X Syndrome

Clinical management guidelines for Friedreich ataxia: best practice in rare diseasesOther

Neurology / Friedreich Ataxia

Friedreich Ataxia

Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the ACMGACMG

Neurology / Friedreich Ataxia

Friedreich Ataxia Hereditary Ataxias Overview

Clinical Management of Neuropsychiatric Symptoms of Huntington Disease: Expert-Based Consensus Guidelines on Agitation, Anxiety, Apathy, Psychosis and Sleep DisordersOther

Neurology / Huntington Disease

Huntington Disease

International Guidelines for the Treatment of Huntington's DiseaseOther

Neurology / Huntington Disease

Huntington Disease

Addendum: Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the ACMGACMG

Neurology / Intellectual Disability

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence based clinical guideline of the ACMGACMG

Neurology / Intellectual Disability

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilityACMG

Neurology / Intellectual Disability

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the ACMGACMG

Neurology / Intellectual Disability

Healthcare recommendations for Joubert syndromeOther

Neurology / Joubert Syndrome

Joubert Syndrome

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophiesOther

Neurology / Limb-Girdle Muscular Dystrophy

Limb Girdle Muscular Dystrophy

Consensus-based statements for the management of mitochondrial stroke-like episodesOther

Neurology / MELAS

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes diseaseOther

Neurology / Menkes Disease

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International NetworkOther

Neurology / MNGIE

Mitochondrial Neurogastrointestinal Encephalomyopathy

Consensus-based care recommendations for adults with myotonic dystrophy type 1Other

Neurology / Myotonic Dystrophy Type 1

Myotonic Dystrophy Type 1

Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1Other

Neurology / Myotonic Dystrophy Type 1

Myotonic Dystrophy Type 1

Consensus-based care recommendations for adults with myotonic dystrophy type 2Other

Neurology / Myotonic Dystrophy Type 2

Myotonic Dystrophy Type 2

Policy statement on folic acid and neural tube defectsACMG

Neurology / Neural Tube Defects

Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis: Practice resource of the NSGCNSGC

Neurology / Neurofibromatosis Type 1

Neurofibromatosis Type 1 Neurofibromatosis Type 2

Health Supervision for Children With Neurofibromatosis Type 1Other

Neurology / Neurofibromatosis Type 1

Neurofibromatosis Type 1

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2Other

Neurology / Neurofibromatosis Type 2

Neurofibromatosis Type 2

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationOther

Neurology / Neurofibromatosis Type 2

Neurofibromatosis Type 2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsOther

Neurology / Neuronal Ceroid Lipofuscinosis (CLN2 Disease)

Neuronal Ceroid Lipofuscinosis

Dopaminergic Therapy for Motor Symptoms in Early Parkinson Disease Practice Guideline SummaryOther

Neurology / Parkinson Disease

Parkinson Disease

Updated consensus guidelines on the management of Phelan-McDermid syndromeOther

Neurology / Phelan-McDermid Syndrome

Phelan Mcdermid Syndrome

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statementOther

Neurology / Pitt-Hopkins Syndrome

Pitt Hopkins Syndrome

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietyOther

Neurology / Primary Mitochondrial Disease

Melas Merrf Narp Leigh Syndrome Mitochondrial Dna Deletion Syndromes Polg Related Disorders

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyOther

Neurology / Pyridoxine-Dependent Epilepsy

Pyridoxine Dependent Epilepsy

Consensus guidelines on managing Rett syndrome across the lifespanOther

Neurology / Rett Syndrome

Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the ACMGACMG

Neurology / Rett Syndrome

Carrier screening for spinal muscular atrophyACMG

Neurology / Spinal Muscular Atrophy

Spinal Muscular Atrophy

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional careOther

Neurology / Spinal Muscular Atrophy

Spinal Muscular Atrophy

Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment ConsiderationsOther

Neurology / Spinal Muscular Atrophy

Spinal Muscular Atrophy

Technical standards and guidelines for spinal muscular atrophy testingACMG

Neurology / Spinal Muscular Atrophy

Spinal Muscular Atrophy

Guidelines on the diagnosis and management of the progressive ataxiasOther

Neurology / Spinocerebellar Ataxias

Spinocerebellar Ataxias

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology RecommendationsOther

Neurology / Sturge-Weber Syndrome

Sturge Weber Syndrome

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management RecommendationsOther

Neurology / Tuberous Sclerosis Complex

Tuberous Sclerosis Complex

Cardiology

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic DiseaseOther

Cardiology / Aortic Disease / Marfan Syndrome

Marfan Syndrome Loeys Dietz Syndrome Vascular Ehlers Danlos Syndrome Familial Thoracic Aortic Aneurysm And Dissection

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathyOther

Cardiology / Arrhythmogenic Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy

2023 ESC Guidelines for the management of cardiomyopathiesOther

Cardiology / Cardiomyopathies

Dilated Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy Restrictive Cardiomyopathy Hypertrophic Cardiomyopathy

Genetic evaluation of cardiomyopathy: a clinical practice resource of the ACMGACMG

Cardiology / Cardiomyopathy

Hypertrophic Cardiomyopathy Dilated Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy Restrictive Cardiomyopathy

Genetic counseling for congenital heart disease: Practice resource of the NSGCNSGC

Cardiology / Congenital Heart Disease

22q11 2 Deletion Syndrome Noonan Syndrome Holt Oram Syndrome Williams Syndrome

An expert consensus document on the management of cardiovascular manifestations of Fabry diseaseOther

Cardiology / Fabry Disease

International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemiaOther

Cardiology / Familial Hypercholesterolemia

Familial Hypercholesterolemia

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic TelangiectasiaOther

Cardiology / Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia

2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic CardiomyopathyOther

Cardiology / Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the NSGCNSGC

Cardiology / Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia SyndromesOther

Cardiology / Inherited Primary Arrhythmia Syndromes

Long Qt Syndrome Jervell And Lange Nielsen Syndrome Brugada Syndrome Catecholaminergic Polymorphic Vt

Management of aortic disease in children with FBN1-related Marfan syndrome: A joint statement from VASCERN and AEPCOther

Cardiology / Marfan Syndrome

Marfan Syndrome

Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus StatementOther

Cardiology / Noonan Syndrome

Noonan Syndrome

2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac AmyloidosisOther

Cardiology / Transthyretin Amyloidosis

Transthyretin Amyloidosis

2022 ESC Guidelines for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac DeathOther

Cardiology / Ventricular Arrhythmias / Sudden Cardiac Death

Brugada Syndrome Catecholaminergic Polymorphic Vt Long Qt Syndrome Jervell And Lange Nielsen Syndrome

Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren SyndromeOther

Cardiology / Williams Syndrome

Williams Syndrome

Connective Tissue

International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasiaOther

Connective Tissue / Achondroplasia

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasiaOther

Connective Tissue / Achondroplasia

Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the ACMGACMG

Connective Tissue / Achondroplasia

The 2017 international classification of the Ehlers-Danlos syndromesOther

Connective Tissue / Ehlers-Danlos Syndromes

Classic Ehlers Danlos Syndrome Hypermobile Ehlers Danlos Syndrome

Evaluation of the adolescent or adult with some features of Marfan syndromeACMG

Connective Tissue / Marfan Syndrome

Marfan Syndrome Loeys Dietz Syndrome

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfectaOther

Connective Tissue / Osteogenesis Imperfecta

Osteogenesis Imperfecta

Genetic evaluation of suspected osteogenesis imperfecta (OI)ACMG

Connective Tissue / Osteogenesis Imperfecta

Osteogenesis Imperfecta

ACMG practice guideline: Genetic evaluation of short statureACMG

Connective Tissue / Short Stature

Turner Syndrome Noonan Syndrome Russell Silver Syndrome Achondroplasia

Hematology

Updated Management Guidelines for Adenosine Deaminase DeficiencyOther

Hematology / Adenosine Deaminase Deficiency

Adenosine Deaminase Deficiency

Guidelines for the Management of α-ThalassaemiaOther

Hematology / Alpha Thalassemia

Alpha Thalassemia

2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-Dependent ThalassemiaOther

Hematology / Beta Thalassemia

Beta Thalassemia

American College of Medical Genetics consensus statement on factor V Leiden mutation testingACMG

Hematology / Factor V Leiden

Factor V Leiden

Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD GenotypeOther

Hematology / G6PD Deficiency

G6pd Deficiency

Risk assessment and genetic counseling for hematologic malignancies: Practice resource of the NSGCNSGC

Hematology / Hematologic Malignancies

Fanconi Anemia Bloom Syndrome Dyskeratosis Congenita

International Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the GRADE methodologyOther

Hematology / Hemophilia

Hemophilia A Hemophilia B

International consensus recommendations on the management of people with haemophilia BOther

Hematology / Hemophilia B

A rapid ACCE review of CYP2C9 and VKORC1 allele testing to inform warfarin dosing in adults at elevated risk for thrombotic eventsACMG

Hematology / Pharmacogenetics

Addendum: Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarinACMG

Hematology / Pharmacogenetics

American Society of Hematology 2020 guidelines for sickle cell disease: management of acute and chronic painOther

Hematology / Sickle Cell Disease

Sickle Cell Disease

American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adultsOther

Hematology / Sickle Cell Disease

Sickle Cell Disease

Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD): A therapeutics bulletin of the ACMGACMG

Hematology / Sickle Cell Disease

Sickle Cell Disease

National Alliance of Sickle Cell Centers Consensus Recommendations on Sickle Cell Disease Health Maintenance: A Consensus StatementOther

Hematology / Sickle Cell Disease

Sickle Cell Disease

American Society of Hematology 2023 guidelines for management of venous thromboembolism: thrombophilia testingOther

Hematology / Thrombophilia

Factor V Leiden Prothrombin G20210a

ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand diseaseOther

Hematology / Von Willebrand Disease

Von Willebrand Disease

Oncology

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the ACMGACMG

Oncology / ATM

Ataxia Telangiectasia

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasiaACMG

Oncology / Beckwith-Wiedemann Syndrome

Beckwith Wiedemann Syndrome

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statementOther

Oncology / Beckwith-Wiedemann Syndrome

Beckwith Wiedemann Syndrome

ERN GENTURIS Clinical Practice Guidelines for the Diagnosis, Surveillance and Management of People with Birt-Hogg-Dubé SyndromeOther

Oncology / Birt-Hogg-Dubé Syndrome

Birt Hogg Dube Syndrome

Health supervision for people with Bloom syndromeOther

Oncology / Bloom Syndrome

Points to consider: is there evidence to support BRCA 1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the ACMGACMG

Oncology / Breast Cancer Screening

Hereditary Breast And Ovarian Cancer

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (NCCN Clinical Practice Guidelines)NCCN

Oncology / Breast/Ovarian/Pancreatic Cancer

Hereditary Breast And Ovarian Cancer Palb2 Related Cancer Predisposition Chek2 Related Breast Cancer Li Fraumeni Syndrome Pten Hamartoma Tumor Syndrome Ataxia Telangiectasia

Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated with Cancer (Committee Opinion No. 727)ACOG

Oncology / Cascade Testing

Hereditary Breast And Ovarian Cancer Lynch Syndrome

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the ACMGACMG

Oncology / CHEK2

Chek2 Related Breast Cancer

Genetic/Familial High-Risk Assessment: Colorectal (NCCN Clinical Practice Guidelines)NCCN

Oncology / Colorectal Cancer

Lynch Syndrome Familial Adenomatous Polyposis Mutyh Associated Polyposis Peutz Jeghers Syndrome Juvenile Polyposis Syndrome

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical managementOther

Oncology / Constitutional Mismatch Repair Deficiency

Constitutional Mismatch Repair Deficiency

American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromesOther

Oncology / Familial Adenomatous Polyposis

Familial Adenomatous Polyposis Mutyh Associated Polyposis

The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Adenomatous Polyposis SyndromesOther

Oncology / Familial Adenomatous Polyposis

Familial Adenomatous Polyposis Mutyh Associated Polyposis

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromesOther

Oncology / GAPPS and Rare Polyposis Syndromes

Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the ACMGACMG

Oncology / Germline Variants

A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)Other

Oncology / Gorlin Syndrome

Gorlin Syndrome

Hereditary Cancer Syndromes and Risk Assessment (Committee Opinion No. 793)ACOG

Oncology / Hereditary Cancer Syndromes

Hereditary Breast And Ovarian Cancer Lynch Syndrome Li Fraumeni Syndrome Pten Hamartoma Tumor Syndrome

Hereditary diffuse gastric cancer: updated clinical practice guidelinesOther

Oncology / Hereditary Diffuse Gastric Cancer

Hereditary Diffuse Gastric Cancer

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromesOther

Oncology / Hereditary GI Cancer Syndromes

Lynch Syndrome Familial Adenomatous Polyposis Mutyh Associated Polyposis Peutz Jeghers Syndrome Juvenile Polyposis Syndrome Pten Hamartoma Tumor Syndrome

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatmentOther

Oncology / Hereditary Leiomyomatosis and Renal Cell Cancer

Hereditary Leiomyomatosis And Renal Cell Cancer

A practice guideline from the ACMG and the NSGC: referral indications for cancer predisposition assessmentACMGNSGC

Oncology / Indications for Oncology Referral

Hereditary Breast And Ovarian Cancer Lynch Syndrome Li Fraumeni Syndrome

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the ACMGACMG

Oncology / Lateralized Overgrowth

Cancer Screening Recommendations for Individuals with Li-Fraumeni SyndromeOther

Oncology / Li-Fraumeni Syndrome

Li Fraumeni Syndrome

Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni SyndromeOther

Oncology / Li-Fraumeni Syndrome

Li Fraumeni Syndrome

American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch SyndromeOther

Oncology / Lynch Syndrome

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancerOther

Oncology / Lynch Syndrome

Care of adults with neurofibromatosis Type 1: a clinical practice resource of the ACMGACMG

Oncology / Neurofibromatosis Type 1

Neurofibromatosis Type 1

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1Other

Oncology / Neurofibromatosis Type 1

Neurofibromatosis Type 1

Management of individuals with germline variants in PALB2: a clinical practice resource of the ACMGACMG

Oncology / PALB2

Palb2 Related Cancer Predisposition

The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) GuidelineOther

Oncology / Peutz-Jeghers Syndrome

Peutz Jeghers Syndrome

Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working GroupOther

Oncology / PTEN Hamartoma Tumor Syndrome

Pten Hamartoma Tumor Syndrome

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndromeOther

Oncology / PTEN Hamartoma Tumor Syndrome

Pten Hamartoma Tumor Syndrome

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the ACMGACMG

Oncology / RAD51C / RAD51D / BRIP1

National Retinoblastoma Strategy Canadian Guidelines for CareOther

Oncology / Retinoblastoma

Guidelines for surveillance of patients with von Hippel-Lindau disease: Consensus statement of the International VHL Surveillance Guidelines Consortium and VHL AllianceOther

Oncology / Von Hippel-Lindau Syndrome

Von Hippel Lindau Syndrome

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care ManagementOther

Oncology / WAGR Syndrome

Metabolic

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert ReviewOther

Metabolic / Acute Intermittent Porphyria

Acute Intermittent Porphyria

EASL Clinical Practice Guidelines on Genetic Cholestatic Liver DiseasesOther

Metabolic / Alagille Syndrome

Alagille Syndrome

Velmanase alfa approved for treatment of non-CNS manifestations of alpha-mannosidosis: A therapeutics bulletin of the ACMGACMG

Metabolic / Alpha-Mannosidosis

Preconception and prenatal testing of biologic fathers for carrier statusACMG

Metabolic / Carrier Screening

Expert Opinion on Diagnosing, Treating and Managing Patients with Cerebrotendinous Xanthomatosis (CTX): A Modified Delphi StudyOther

Metabolic / Cerebrotendinous Xanthomatosis

Cerebrotendinous Xanthomatosis

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upOther

Metabolic / Classic Galactosemia

Classic Galactosemia

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upOther

Metabolic / Congenital Disorder of Glycosylation Type Ia

Congenital Disorder Of Glycosylation Type 1a

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patientsOther

Metabolic / Cystinosis

Cystinuria: clinical practice recommendationOther

Metabolic / Cystinuria

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry diseaseOther

Metabolic / Fabry Disease

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patientsOther

Metabolic / Fabry Disease

Fabry disease practice guidelines: Recommendations of the NSGCNSGC

Metabolic / Fabry Disease

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher diseaseOther

Metabolic / Gaucher Disease

Gaucher Disease

Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensusOther

Metabolic / Gaucher Disease

Gaucher Disease

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionOther

Metabolic / Glutaric Aciduria Type 1

Glutaric Aciduria Type 1

Diagnosis and management of glycogen storage disease type I: a practice guideline of the ACMGACMG

Metabolic / Glycogen Storage Disease Type I

Glycogen Storage Disease Type 1

Glycogen Storage Disease Type III diagnosis and management guidelinesACMG

Metabolic / Glycogen Storage Disease Type III

Glycogen Storage Disease Type 3

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study groupOther

Metabolic / Glycogen Storage Disease Type V (McArdle Disease)

Glycogen Storage Disease Type V

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the ACMGACMG

Metabolic / Glycogen Storage Diseases

EASL Clinical Practice Guidelines on haemochromatosisOther

Metabolic / Hereditary Hemochromatosis

Hereditary Hemochromatosis

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiencyOther

Metabolic / Homocystinuria

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the ACMGACMG

Metabolic / Hunter Syndrome (MPS II)

Mucopolysaccharidosis Type 2

Clinical Practice Guidelines for HypophosphatasiaOther

Metabolic / Hypophosphatasia

Hypophosphatasia

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe diseaseOther

Metabolic / Krabbe Disease

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approachOther

Metabolic / Maple Syrup Urine Disease

Maple Syrup Urine Disease

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesOther

Metabolic / Metachromatic Leukodystrophy

Metachromatic Leukodystrophy

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the ACMGACMG

Metabolic / Metachromatic Leukodystrophy

Metachromatic Leukodystrophy

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical managementOther

Metabolic / Metachromatic Leukodystrophy

Metachromatic Leukodystrophy

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERNOther

Metabolic / Methylmalonic Acidemia

Methylmalonic Acidemia

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revisionOther

Metabolic / Methylmalonic and Propionic Acidemia

Methylmalonic Acidemia Propionic Acidemia

Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the ACMGACMG

Metabolic / Methylmalonic and Propionic Acidemia

Methylmalonic Acidemia Propionic Acidemia

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietyOther

Metabolic / Mitochondrial Disease

Mucopolysaccharidosis I: management and treatment guidelinesOther

Metabolic / Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type 1

Sanfilippo syndrome: consensus guidelines for clinical careOther

Metabolic / Mucopolysaccharidosis Type III (Sanfilippo Syndrome)

Mucopolysaccharidosis Type 3

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceOther

Metabolic / Mucopolysaccharidosis Type IVA (Morquio A Syndrome)

Mucopolysaccharidosis Type 4

Emergency preparedness for newborn screening and genetic servicesACMG

Metabolic / Newborn Screening

Newborn screening: toward a uniform screening panel and system (main report)ACMG

Metabolic / Newborn Screening

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the ACMGACMG

Metabolic / Niemann-Pick Disease

Niemann Pick Disease

Consensus clinical management guidelines for Niemann-Pick disease type COther

Metabolic / Niemann-Pick Disease Type C

Niemann Pick Disease

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)Other

Metabolic / Niemann-Pick Disease Types A/B

Niemann Pick Disease

European guidelines on diagnosis and treatment of phenylketonuria: First revisionOther

Metabolic / Phenylketonuria

Phenylketonuria

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the ACMGACMG

Metabolic / Phenylketonuria

Phenylketonuria

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the ACMGACMG

Metabolic / Pompe Disease

Glycogen Storage Disease Type 2

Pompe disease diagnosis and management guidelineACMG

Metabolic / Pompe Disease

Glycogen Storage Disease Type 2

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024Other

Metabolic / Pompe Disease

Glycogen Storage Disease Type 2

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)Other

Metabolic / Pompe Disease

Glycogen Storage Disease Type 2

Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approachOther

Metabolic / Propionic Acidemia

Propionic Acidemia

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendationsOther

Metabolic / Tyrosinemia Type 1

Tyrosinemia Type 1

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revisionOther

Metabolic / Urea Cycle Disorders

Ornithine Transcarbamylase Deficiency

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approachOther

Metabolic / Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Very Long Chain Acyl Coa Dehydrogenase Deficiency

A multidisciplinary approach to the diagnosis and management of Wilson diseaseOther

Metabolic / Wilson Disease

EASL-ERN Clinical Practice Guidelines on Wilson's diseaseOther

Metabolic / Wilson Disease

Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD): A therapeutics bulletin of the ACMGACMG

Metabolic / X-Linked Adrenoleukodystrophy

X Linked Adrenoleukodystrophy

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based ApproachOther

Metabolic / X-Linked Adrenoleukodystrophy

X Linked Adrenoleukodystrophy

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesOther

Metabolic / Zellweger Spectrum Disorders

Zellweger Spectrum Disorders

Zellweger spectrum disorders: clinical overview and management approachOther

Metabolic / Zellweger Spectrum Disorders

Zellweger Spectrum Disorders

Laboratory

Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the ACMGACMG

Laboratory / Acylcarnitines

Medium Chain Acyl Coa Dehydrogenase Deficiency Very Long Chain Acyl Coa Dehydrogenase Deficiency Long Chain 3 Hydroxyacyl Coa Dehydrogenase Deficiency Carnitine Uptake Defect

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndromeACMG

Laboratory / Alport Syndrome

Alport Syndrome

Laboratory analysis of amino acids, 2018 revision: a technical standard of the ACMGACMG

Laboratory / Amino Acids

Phenylketonuria Maple Syrup Urine Disease Homocystinuria

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesACMG

Laboratory / Array-Based Technologies

Laboratory testing for preconception/prenatal carrier screening: A technical standard of the ACMGACMG

Laboratory / Carrier Screening

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the ACMGACMG

Laboratory / Colorectal Cancer

Lynch Syndrome Familial Adenomatous Polyposis Mutyh Associated Polyposis Juvenile Polyposis Syndrome Peutz Jeghers Syndrome

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)ACMG

Laboratory / Colorectal Cancer Testing

Lynch Syndrome Familial Adenomatous Polyposis Mutyh Associated Polyposis

Biochemical testing for congenital disorders of glycosylation: A technical standard of the ACMGACMG

Laboratory / Congenital Disorders of Glycosylation

Congenital Disorder Of Glycosylation Type 1a

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the ACMGACMG

Laboratory / Consanguinity and Uniparental Disomy

Angelman Syndrome Prader Willi Syndrome Beckwith Wiedemann Syndrome Russell Silver Syndrome

Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral LOH in neoplastic disorders: a joint recommendation of the ACMG and CGCACMG

Laboratory / Copy Number Variants

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the ACMG and ClinGenACMG

Laboratory / Copy Number Variants

CFTR variant testing: a technical standard of the ACMGACMG

Laboratory / Cystic Fibrosis

Cystic Fibrosis

Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and GenomicsACMG

Laboratory / Direct-to-Consumer Testing

Technical and clinical assessment of fluorescence in situ hybridization: an ACMG/ASHG position statementACMG

Laboratory / FISH

Laboratory testing for fragile X, 2021 revision: a technical standard of the ACMGACMG

Laboratory / Fragile X Syndrome

Fragile X Syndrome

Laboratory diagnosis of galactosemia: a technical standard and guideline of the ACMGACMG

Laboratory / Galactosemia

Classic Galactosemia

Diagnostic gene sequencing panels: from design to report — a technical standard of the ACMGACMG

Laboratory / Gene Panels

Points to consider in the clinical application of genomic sequencingACMG

Laboratory / Genomic Sequencing

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the ACMGACMG

Laboratory / Germline Structural Variants

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingACMG

Laboratory / Incidental/Secondary Findings

Incidental findings in clinical genomics: a clarificationACMG

Laboratory / Incidental/Secondary Findings

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the ACMGACMG

Laboratory / Laboratory-Developed Tests

Biomarker testing for lysosomal diseases: A technical standard of the ACMGACMG

Laboratory / Lysosomal Storage Disorders

Fabry Disease Gaucher Disease Niemann Pick Disease Krabbe Disease

Measurement of lysosomal enzyme activities: A technical standard of the ACMGACMG

Laboratory / Lysosomal Storage Disorders

Fabry Disease Gaucher Disease Niemann Pick Disease Krabbe Disease Mucopolysaccharidosis Type 1

Tandem mass spectrometry in newborn screeningACMG

Laboratory / Mass Spectrometry

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the ACMGACMG

Laboratory / Microarray

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testingACMG

Laboratory / MTHFR Testing

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the ACMGACMG

Laboratory / Myotonic Dystrophy

Myotonic Dystrophy Type 1

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the ACMGACMG

Laboratory / Neural Tube Defects

Position Statement on Importance of Residual Newborn Screening Dried Blood SpotsACMG

Laboratory / Newborn Screening

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the ACMGACMG

Laboratory / Next Generation Sequencing

Laboratory analysis of organic acids, 2018 update: a technical standard of the ACMGACMG

Laboratory / Organic Acids

Methylmalonic Acidemia Propionic Acidemia Isovaleric Acidemia Glutaric Aciduria Type 1

Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Laboratory / Patient Privacy

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the ACMGACMG

Laboratory / Peroxisomal Disorders

Zellweger Spectrum Disorders Refsum Disease X Linked Adrenoleukodystrophy Rhizomelic Chondrodysplasia Punctata

Clinical pharmacogenomic testing and reporting: A technical standard of the ACMGACMG

Laboratory / Pharmacogenetics

Points to consider in the practice of postmortem genetic testing: A statement of the ACMGACMG

Laboratory / Postmortem Genetic Testing

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the ACMGACMG

Laboratory / Reanalysis of Test Results

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Laboratory / Secondary Findings

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Laboratory / Secondary Findings

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Laboratory / Secondary Findings

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the ACMGACMG

Laboratory / Secondary Findings

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Laboratory / Secondary Findings

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and GenomicsACMG

Laboratory / Secondary Findings

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Laboratory / Secondary Findings

Diagnostic testing for uniparental disomy: a points to consider statement from the ACMGACMG

Laboratory / Uniparental Disomy

Angelman Syndrome Prader Willi Syndrome Beckwith Wiedemann Syndrome Russell Silver Syndrome

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variantsACMG

Laboratory / Variant Interpretation

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the ACMGACMG

Laboratory / Venous Thromboembolism

Factor V Leiden Prothrombin G20210a

Reproductive

Statement on guidance for genetic counseling in advanced paternal ageACMG

Reproductive / Advanced Paternal Age

ACMG statement on noninvasive prenatal screening for fetal aneuploidyACMG

Reproductive / Aneuploidy

Down Syndrome Edwards Syndrome Patau Syndrome Turner Syndrome Klinefelter Syndrome

Screening for fetal aneuploidy and neural tube defectsACMG

Reproductive / Aneuploidy / Neural Tube Defects

Down Syndrome Edwards Syndrome Patau Syndrome

ACMG position statement on prenatal/preconception expanded carrier screeningACMG

Reproductive / Carrier Screening

Carrier Screening for Genetic Conditions (Committee Opinion No. 691)ACOG

Reproductive / Carrier Screening

Cystic Fibrosis Sickle Cell Disease Spinal Muscular Atrophy Fragile X Syndrome Tay Sachs Disease

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the ACMGACMG

Reproductive / Carrier Screening

Cystic Fibrosis Sickle Cell Disease Spinal Muscular Atrophy Fragile X Syndrome

Updated recommendations for CFTR carrier screening: A position statement of the ACMGACMG

Reproductive / Cystic Fibrosis

Cystic Fibrosis

Update on Carrier Screening for Cystic Fibrosis (Committee Opinion No. 486)ACOG

Reproductive / Cystic Fibrosis Screening

Cystic Fibrosis

Carrier screening in individuals of Ashkenazi Jewish descent (retired)ACMG

Reproductive / Ethnicity-Based Carrier Screening

Screening for Fetal Chromosomal Abnormalities (Practice Bulletin No. 226)ACOG

Reproductive / Fetal Aneuploidy Screening

Down Syndrome Edwards Syndrome Patau Syndrome Turner Syndrome

Updates to Male Infertility: AUA/ASRM Guideline (2024)Other

Reproductive / Male Infertility

Male Infertility

Neural Tube Defects (Practice Bulletin No. 187)ACOG

Reproductive / Neural Tube Defects

Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the ACMGACMG

Reproductive / Non-Invasive Prenatal Testing

Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the ACMGACMG

Reproductive / Non-Invasive Prenatal Testing

Down Syndrome Edwards Syndrome Patau Syndrome

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnanciesACMG

Reproductive / Non-Invasive Prenatal Testing

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the ACMGACMG

Reproductive / Prenatal Cytogenetics

Access to reproductive options after prenatal diagnosis — patient access and physician responsibilities: an updated position statement of the ACMGACMG

Reproductive / Prenatal Diagnosis

Prenatal Diagnostic Testing for Genetic Disorders (Practice Bulletin No. 162)ACOG

Reproductive / Prenatal Diagnostic Testing

Down Syndrome Edwards Syndrome Patau Syndrome

ACMG statement on access to reproductive options after prenatal diagnosisACMG

Reproductive / Reproductive Options

Guidelines for the prenatal diagnosis of fetal skeletal dysplasiasACMG

Reproductive / Skeletal Dysplasia

Achondroplasia Thanatophoric Dysplasia Osteogenesis Imperfecta

Special Sensory

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing lossACMG

Special Sensory / Hearing Loss

Hereditary Hearing Loss Overview Gjb2 Related Hearing Loss Pendred Syndrome Usher Syndrome Waardenburg Syndrome Branchio Oto Renal Syndrome Jervell And Lange Nielsen Syndrome

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the ACMGACMG

Special Sensory / Hearing Loss

Hereditary Hearing Loss Overview Gjb2 Related Hearing Loss Pendred Syndrome Usher Syndrome Waardenburg Syndrome Branchio Oto Renal Syndrome Jervell And Lange Nielsen Syndrome

Statement of the American College of Medical Genetics on universal newborn hearing screeningACMG

Special Sensory / Hearing Loss

Hereditary Hearing Loss Overview Gjb2 Related Hearing Loss

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic NeuropathyOther

Special Sensory / Leber Hereditary Optic Neuropathy

Leber Hereditary Optic Neuropathy

Ethics and Legal

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the ACMGACMG

Ethics and Legal / Access to Genetic Testing

Genetic testing in adoption (ACMG/ASHG)ACMG

Ethics and Legal / Adoptions

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Clinical Trials

Conflict of Interest (ACMG statement)ACMG

Ethics and Legal / Conflicts of Interest

Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and GenomicsACMG

Ethics and Legal / Data Sharing

The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Designated Record Set

The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Electronic Health Records

Guidelines for expert witness testimony for the specialty of medical geneticsACMG

Ethics and Legal / Expert Witness Testimony

Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Expert Witness Testimony

American College of Medical Genetics position statement on gene patents and accessibility of gene testingACMG

Ethics and Legal / Gene Patents

Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Genetic Discrimination

Technical report: ethical and policy issues in genetic testing and screening of childrenACMG

Ethics and Legal / Genetic Testing in Children

Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent—a statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Genetic Testing in Minors

Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and GenomicsACMG

Ethics and Legal / Genome Editing

Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and GenomicsACMG

Ethics and Legal / Health Equity

Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and GenomicsACMG

Ethics and Legal / Healthcare Policy

Points to consider for informed consent for genome/exome sequencingACMG

Ethics and Legal / Informed Consent

Genetics and managed care: Policy statement of the American College of Medical GeneticsACMG

Ethics and Legal / Managed Care

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider — a statement of the ACMGACMG

Ethics and Legal / Patient Phenotypes

Duty to re-contactACMG

Ethics and Legal / Patient Re-Contact

Patient re-contact after revision of genomic test results: points-to-consider — a statement of the ACMGACMG

Ethics and Legal / Patient Re-Contact

Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the ACMGACMG

Ethics and Legal / Polygenic Risk Scores

The clinical application of polygenic risk scores: A points to consider statement of the ACMGACMG

Ethics and Legal / Polygenic Risk Scores

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Population Screening

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Population Screening

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Population Screening

Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Scope of Practice

Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)ACMG

Ethics and Legal / Telegenetics

Health Policy

Clinical utility of genetic and genomic services: a position statement of the ACMGACMG

Health Policy / Clinical Utility

Cancer

Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes: Practice resource of the NSGCNSGC

Cancer / Hereditary Breast and Ovarian Cancer

Hereditary Breast And Ovarian Cancer Palb2 Related Cancer Predisposition Chek2 Related Breast Cancer

Risk assessment and genetic counseling for Lynch syndrome: Practice resource of the NSGC and the Collaborative Group of the Americas on Inherited Gastrointestinal CancerNSGC

Cancer / Lynch Syndrome

Lynch Syndrome Constitutional Mismatch Repair Deficiency

Other

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndromeOther

Other / 22q11.2 Deletion Syndrome

22q11 2 Deletion Syndrome

KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD)Other

Other / Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease

Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International ConferenceOther

Other / Autosomal Recessive Polycystic Kidney Disease

Autosomal Recessive Polycystic Kidney Disease

Bardet-Biedl Syndrome Improved Diagnosis Criteria and Management: Inter European Reference Networks Consensus Statement and RecommendationsOther

Other / Bardet-Biedl Syndrome

Bardet Biedl Syndrome

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management GuidelinesOther

Other / Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous Syndrome

Developing a CHARGE Syndrome Checklist: Health Supervision Across the Lifespan (From Head to Toe)Other

Other / CHARGE Syndrome

Charge Syndrome

Parameters for Evaluation and Treatment of Patients with Cleft Lip/Palate or Other Craniofacial DifferencesOther

Other / Cleft Lip and Palate

Cleft Lip And Palate

Diagnosis, Treatment, and Management Recommendations for Cleidocranial Dysplasia: A Modified Delphi PanelOther

Other / Cleidocranial Dysplasia

Cleidocranial Dysplasia

The Cockayne Syndrome Natural History (CoSyNH) Study: Clinical Findings in 102 Individuals and Recommendations for CareOther

Other / Cockayne Syndrome

Cockayne Syndrome

Genetic counseling and screening of consanguineous couples and their offspring: Recommendations of the NSGCNSGC

Other / Consanguinity

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementOther

Other / Cornelia de Lange Syndrome

Cornelia De Lange Syndrome

Costello syndrome: Clinical phenotype, genotype, and management guidelinesOther

Other / Costello Syndrome

Costello Syndrome

Updated Guideline on Treatment and Management of CraniosynostosisOther

Other / Craniosynostosis (including Pfeiffer Syndrome)

Pfeiffer Syndrome

Children and adults affected by Cri du Chat syndrome: Care's recommendationsOther

Other / Cri du Chat Syndrome

Cri Du Chat Syndrome

Health Supervision for Children and Adolescents With Down SyndromeOther

Other / Down Syndrome

Elective genomic testing: Practice resource of the NSGCNSGC

Other / Elective Genomic Testing

Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for Rare Skin DiseasesOther

Other / Epidermolysis Bullosa

Epidermolysis Bullosa

ERNICA guidelines for the management of rectosigmoid Hirschsprung's diseaseOther

Other / Hirschsprung Disease

Hirschsprung Disease

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmentiOther

Other / Incontinentia Pigmenti

Incontinentia Pigmenti

Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the European Malignant Hyperthermia GroupOther

Other / Malignant Hyperthermia

Malignant Hyperthermia

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for careOther

Other / Mowat-Wilson Syndrome

Mowat Wilson Syndrome

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus ReportOther

Other / Pierre Robin Sequence

Pierre Robin Sequence

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statementOther

Other / PIK3CA-Related Overgrowth Spectrum

Pik3ca Related Overgrowth Spectrum

Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A practice resource from the NSGCNSGC

Other / Polygenic Risk Scores

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementOther

Other / Rubinstein-Taybi Syndrome

Rubinstein Taybi Syndrome

Practice parameter for the diagnosis and management of primary immunodeficiencyOther

Other / Severe Combined Immunodeficiency

Severe Combined Immunodeficiency

Surveillance guidelines for children with trisomy 13Other

Other / Trisomy 13 (Patau Syndrome)

Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical ReportOther

Other / Trisomy 13 and 18

Edwards Syndrome Patau Syndrome

Surveillance guidelines for children with trisomy 18Other

Other / Trisomy 18 (Edwards Syndrome)

Edwards Syndrome

Management guideline for Werner syndrome 2020Other

Other / Werner Syndrome

Werner Syndrome

Health Care Supervision for Children With Williams SyndromeOther

Other / Williams Syndrome

Williams Syndrome

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervisionOther

Other / Wolf-Hirschhorn Syndrome

Wolf Hirschhorn Syndrome

Xeroderma pigmentosum clinical practice guidelinesOther

Other / Xeroderma Pigmentosum

Xeroderma Pigmentosum

Endocrine

Consensus Statement on Management of Intersex DisordersOther

Endocrine / Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice GuidelineOther

Endocrine / Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Genetic counseling in diabetes mellitus: A practice resource of the NSGCNSGC

Endocrine / Diabetes Mellitus

Maturity Onset Diabetes Of The Young Transient Neonatal Diabetes Mellitus

Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statementOther

Endocrine / Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Paraganglioma Pheochromocytoma Syndromes

Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice GuidelineOther

Endocrine / Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Paraganglioma Pheochromocytoma Syndromes

European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatmentOther

Endocrine / Kallmann Syndrome

Kallmann Syndrome

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of EndocrinologyOther

Endocrine / Klinefelter Syndrome

Klinefelter Syndrome

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortiumOther

Endocrine / McCune-Albright Syndrome

Mccune Albright Syndrome

Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)Other

Endocrine / Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1

Revised American Thyroid Association guidelines for the management of medullary thyroid carcinomaOther

Endocrine / Multiple Endocrine Neoplasia Type 2

Multiple Endocrine Neoplasia Type 2

Prader-Willi syndrome: guidance for children and transition into adulthoodOther

Endocrine / Prader-Willi Syndrome

Prader Willi Syndrome

Recommendations for the Diagnosis and Management of Prader-Willi SyndromeOther

Endocrine / Prader-Willi Syndrome

Prader Willi Syndrome

Diagnosis and management of Silver-Russell syndrome: first international consensus statementOther

Endocrine / Russell-Silver Syndrome

Russell Silver Syndrome

Clinical practice guidelines for the care of girls and women with Turner syndromeOther

Endocrine / Turner Syndrome

Turner Syndrome

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of Wolfram syndromeOther

Endocrine / Wolfram Syndrome

Wolfram Syndrome

Prenatal

Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: Recommendations of the NSGCNSGC

Prenatal / Down Syndrome

Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the NSGCNSGC

Prenatal / Expanded Carrier Screening

Pulmonary

The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the AdultOther

Pulmonary / Alpha-1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency

Cystic Fibrosis Foundation Guidelines on CFTR Modulator TherapyOther

Pulmonary / CFTR Modulator Therapy

Cystic Fibrosis

Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPIDOther

Pulmonary / Cystic Fibrosis

Cystic Fibrosis

Molecular testing for cystic fibrosis carrier status practice guidelines: Recommendations of the NSGCNSGC

Pulmonary / Cystic Fibrosis

Cystic Fibrosis

Cystic Fibrosis Foundation Evidence-Based Guidelines for Management of Infants with Cystic FibrosisOther

Pulmonary / Cystic Fibrosis Management

Cystic Fibrosis

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesiaOther

Pulmonary / Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia

Practice Management

Genetic counseling clinical documentation: Practice resource of the NSGCNSGC

Practice Management / Clinical Documentation

Standardized human pedigree nomenclature: Update and assessment of the recommendations of the NSGCNSGC

Practice Management / Pedigree Nomenclature

An evidence-based practice guideline of the NSGC for telehealth genetic counselingNSGC

Practice Management / Telehealth