Resource Details

Guanidinoacetate Methyltransferase (GAMT) Deficiency ACT Sheet

08/03/2022 10:58am
https://www.acmg.net/PDFLibrary/GAMT.pdf
National Coordinating Center for the Regional Genetics Networks (NCC),American College of Medical Genetics and Genomics (ACMG)

The ACMG ACT Sheets and their accompanying algorithms are a great resources for health care providers looking for information on genetic conditions (identified through newborn screening and beyond) to help inform clinical decision making. Developed by the American College of Medical Genetics and Genomics and the National Coordinating Center for the Regional Genetics Networks (NCC), ACMG ACT Sheets are available on the ACMG websites. Given the rarity of many genetic conditions—ACT Sheets and algorithms are excellent refreshers on the conditions, diagnoses, and next steps for patients.

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.

The first page of the ACT sheets includes information are developed by the ACT Sheet Workgroup. Each ACT Sheet also include 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 sub-specialists for consultation and referral for the condition(s) described in the ACT Sheet.

07/21/22

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