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 Access
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
Genetics in MedicineVol. 15Issue 5p399–407Published in issue: May, 2013- G. Bradley Schaefer
- Nancy J. Mendelsohn
- for the Professional Practice and Guidelines Committee
Cited in Scopus: 321The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. In addition, increased attention has been paid to these conditions by both lay and professional groups. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with autism spectrum disorders. - ACMG-Practice-GuidelinesOpen Archive
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Genetics in MedicineVol. 12Issue 11p742–745Published in issue: November, 2010- Melanie Manning
- Louanne Hudgins
- for the Professional Practice and Guidelines Committee
Cited in Scopus: 438Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity.
