Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
Points to consider in the reeavaluation_Final

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Diagnosis and Management of Glycogen Stored Diseases type VI and IX a practice resource of ACMG
Diagnosis and Management of Glycogen Stored Diseases type VI and IX a practice resource of ACMG

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Care of Adults with Neurofibromatosis Type 1: a clinical practice resource of the American College of Medical Genetics and Genomics
Care of Adults with Neurofibromatosis Type 1: a clinical practice resource of the American College o

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

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Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental

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Genetic Evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetic Evaluation of cardiomyopathy: a clinical practice resource of the American College of Medica

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Developing a Value Framework for Genetic Diagnosis: Part I A Systematic Review of Outcomes Hierarchies and Measurement Approaches
Developing a Value Framework for Genetic Diagnosis: Part I A Systematic Review of Outcomes Hierarchi

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A Practice Guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: Referral Indications for Cancer Predisposition Assessment
A Practice Guideline from the American College of Medical Genetics and Genomics and the National Soc

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

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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (French)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (French)

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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (German)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (German)

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Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Phenylalanine hydroxylase deficiency: diagnosis and management guideline

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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Spanish)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Spanish)

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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Turkish)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Turkish)

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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Portuguese)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Portuguese)

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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Italian)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Italian)

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American Co

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Preconception and prenatal testing of biologic fathers for carrier status
Preconception and prenatal testing of biologic fathers for carrier status

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Statement on noninvasive prenatal screening for fetal aneuploidy
Statement on noninvasive prenatal screening for fetal aneuploidy

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Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics and Genomics Mutation Panel
Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics

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Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisions
Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guide

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

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Carrier Screening for Spinal Muscular Atrophy
Carrier Screening for Spinal Muscular Atrophy

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Carrier Screening in Individuals of Ashkenazi Jewish Descent
Carrier Screening in Individuals of Ashkenazi Jewish Descent

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ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

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ACMG position statement on prenatal/ preconception expanded carrier screening
ACMG position statement on prenatal/ preconception expanded carrier screening

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Evaluation of the Adolescent or Adult with Some Features of Marfan Syndrome
Evaluation of the Adolescent or Adult with Some Features of Marfan Syndrome

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Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities
Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detectio

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Genetic Counseling and Testing for Alzheimer Disease Joint Practice Guidelines of the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors
Genetic Counseling and Testing for Alzheimer Disease Joint Practice Guidelines of the American Colle

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Diagnostic Criteria and Tumor Screening for Individuals with Isolated Hemihyperplasia
Diagnostic Criteria and Tumor Screening for Individuals with Isolated Hemihyperplasia

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ACMG Practice Guideline: Genetic Evaluation of Short Stature
ACMG Practice Guideline: Genetic Evaluation of Short Stature

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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

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Screening for fetal aneuploidy and neural tube defects
Screening for fetal aneuploidy and neural tube defects

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Statement on Guidance for Genetic Counseling in Advanced Paternal Age
Statement on Guidance for Genetic Counseling in Advanced Paternal Age

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Newborn Screening: Toward a Uniform Screening Panel and System
Newborn Screening: Toward a Uniform Screening Panel and System

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American College of Medical Genetics and Genomics Statement on Diagnostic Testing for Uniparental Disomy
American College of Medical Genetics and Genomics Statement on Diagnostic Testing for Uniparental Di

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Pompe Disease Diagnosis and Management Guideline
Pompe Disease Diagnosis and Management Guideline

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American College of Medical Genetics and Genomics Consensus Statement on Factor V Leiden Mutation Testing
American College of Medical Genetics and Genomics Consensus Statement on Factor V Leiden Mutation Te

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Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI)
Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI)

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American College of Medical Genetics and Genomics Guideline on the Cytogenetic Evaluation of the Individual with Developmental Delay or Mental Retardation
American College of Medical Genetics and Genomics Guideline on the Cytogenetic Evaluation of the Ind

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Fragile X Syndrome: Diagnostic and Carrier Testing
Fragile X Syndrome: Diagnostic and Carrier Testing

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