| 13th National Neonatal Screening Symposium Proceedings
Conference proceedings |  |
| 2001 Tandem Mass Spectrometry Annual Summary Report
An overview of the specimen preparation and reported results for the 2001 pilot Tandem Mass Spectrometry Proficiency Testing Program. | |
| 21-Hydroxylase Deficiency
This review focuses on the diagnosis, management, and genetic counseling of patients and families with 21-hydroxylase deficiency. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| 22q11.2 Deletion Syndrome
This review focuses on the diagnosis, management, and genetic counseling of patients and families with 22q11.2 deletion syndrome. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| 22q13.3 Deletion Syndrome
This review focuses on the diagnosis, management, and genetic counseling of patients and families with 22q13.3 Deletion Syndrome. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| 3-M Syndrome
This review focuses on the diagnosis, management, and genetic counseling of patients and families with 3-M Syndrome. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Gene Variants and Congenital Anomalies: A HuGE Review
This review identifies the allelic variants of MTHFR and describes what is known about the frequency of these variants in different populations. The review discusses the diseases with which these allelic variants are associated. It also summarizes the magnitude of risks and associated risk factors, and evaluates associated genetic tests. Resources and a bibliography are provided. | |
| A Fragile X'planation
This booklet provides explains molecular testing for fragile X syndrome. The author assumes that families using the booklet have already received an explanation of the nature of fragile X syndrome. | |
| A New Era in Newborn Screening - Saving Lives, Improving Outcome
This is a satellite broadcast from a program about four families whose children's lives were saved from life-threatening diseases by newborn screening, early diagnosis, and effective management. The program follows the progress of a heelstick blood spot from the hospital to the laboratory and through the follow-up process. Pediatricians and medical genetics experts discuss diagnosis, management, and remaining challenges related to newborn screening. | |
| A Practice Guideline on Wilson Disease
The AASLD Practice Guideline Committee collaborated with the authors and external reviewers to produce this guideline. It was commissioned and approved by the American Association for the Study of Liver Diseases. The guideline describes up-to-date approaches to the diagnosis and treatment of patients with Wilson disease. It includes an algorithm for assessment of suspected Wilson disease. | |
| A Vision for the Future of Genomics Research
This plan for the future of NHGRI and genomics research is the outcome of almost two years of intense discussions with hundreds of scientists and members of the public. The vision is formulated into three major themes — genomics to biology, genomics to health, and genomics to society — and six crosscutting elements that are relevant to all three themes: resources; technology development; computational biology; training; ethical, legal and social implications; and education. A series of "grand challenges" are presented for each theme. Finally, the role of the NHGRI is discussed. | |
| Aceruloplasminemia
This review focuses on the diagnosis, management, and genetic counseling of patients and families with aceruloplasminemia. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| Achondrogenesis Type 1B
This review focuses on the diagnosis, management, and genetic counseling of patients and families with achondrogenesis type 1B. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| Achondroplasia (GeneReviews)
This review focuses on the diagnosis, management, and genetic counseling of patients and families with achondroplasia. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| Achondroplasia (MOD)
Describes achondroplasia in general, discusses its causes, associated physical features, prenatal diagnosis, treatment, prevention, and more. | |
| Achondroplasia Guidelines for Health Supervision (Table)
Summarizes appropriate clinical evaluations, guidance, and monitoring in the care of families and individuals with achondroplasia from infancy through early adulthood. For full text, see policy statement "Health Supervision for Children With Achondroplasia" (RE9514). | |
| Achromatopsia
This review focuses on the diagnosis, management, and genetic counseling of patients and families with total color blindness/rod monochromatism. Topics include: summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling, and molecular genetics. Resources, references, author information, and links to genomic databases, and Medline citations are also provided. | |
| ACMG Policy Statement: Folic Acid and Neural Tube Defects
This revised policy statement supercedes "Folic Acid and Pregnancy" (1994) and "Folic Acid: Statement on Fortification and Supplementation" (1997). This statement provides a background and summary of the prevalence and major types of neural tube defects. Folic acid supplementation is discussed in detail. | |
| ACMG Statement on Direct-to-Consumer Genetic Testing
This statement succinctly states the ACMG position that genetic tests should only be provided by appropriately qualified health professionals. Some potential harms of tests provided through other routes (for ex. "home testing kits"), are listed. | |
| ACOG Technology Assessment in Obstetrics and Gynecology: Genetics and Molecular Diagnostic Testing
Developed by the ACOG Committee on Genetics, this document reviews the basics of genetic transmission and genetic technologies. Discussion topics include: the organization of the genome, mendelian inheritance patterns, non-mendelian inheritance patterns, and methods of molecular diagnostic testing. Implications, limitations, and applications of testing are also discussed. | |
 |
|
