ACMG ACT sheets and confirmatory algorithms

This resource describes the interrelationships between the conditions screened in newborn screening laboratories and the markers (analytes) used for screening. For each marker(s), there is 1. an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communica...

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Detalles Bibliográficos
Autor principal: American College of Medical Genetics (author)
Autor Corporativo: American College of Medical Genetics, author, issuing body (author)
Formato: Revista digital
Idioma:Inglés
Publicado: Bethesda, MD : American College of Medical Genetics 2001.
Materias:
Ver en Biblioteca Universitat Ramon Llull:https://discovery.url.edu/permalink/34CSUC_URL/1im36ta/alma991009820262406719
Descripción
Sumario:This resource describes the interrelationships between the conditions screened in newborn screening laboratories and the markers (analytes) used for screening. For each marker(s), there is 1. an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2. an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant. By clicking on either the ACT sheet or Algorithm for a particular condition in the column labeled "Links," you will be linked to the corresponding materials. The algorithms were developed by a work group that included experts in the various specialties and conditions involved in newborn screening for endocrine, hematological, genetic and metabolic diseases. The first page of the ACT sheets includes information that was developed by the experts. It includes links to informational resources to allow the health professional to obtain additional information, if needed. The second page of the ACT sheet includes links to web sites that allow one to identify subspecialists for consultation and referral for the condition(s) described in the ACT sheet. It is supplemented with links to your State Newborn Screening Program and is available for the inclusion of additional health professionals who may be consulted in your area.
Descripción Física:1 online resource