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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
2 Results
- ACMG-Practice-GuidelinesOpen Archive
Carrier screening for spinal muscular atrophy
Genetics in MedicineVol. 10Issue 11p840–842Published in issue: November, 2008- Thomas W. Prior
- for the Professional Practice and Guidelines Committee
Cited in Scopus: 184The autosomal recessive disorder proximal spinal muscular atrophy (SMA, MIM #253300) is a severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, which results in progressive proximal muscle weakness and paralysis. SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis, with an estimated prevalence of 1 in 10,000 live births and a carrier frequency of 1/40–1/60. Childhood SMA is subdivided into three clinical groups on the basis of age of onset and clinical course: type I SMA (Werdnig-Hoffmann) is characterized by severe, generalized muscle weakness and hypotonia at birth or within the first 3 months. - ACMG-Practice-GuidelinesOpen Archive
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population
Genetics in MedicineVol. 10Issue 1p57–72Published in issue: January, 2008- Kristin G. Monaghan
- Gerald L. Feldman
- Glenn E. Palomaki
- Elaine B. Spector
- Ashkenazi Jewish Reproductive Screening Working Group
- the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 35These Technical Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results.
