ACMG and ACOG Recommended Conditions
|Disease Name||X-linked?||Biological Systems Affected||Clinical Outcome||Recommended By|
|Neurologic, Cognitive||Metabolic, Endrocrine||Circulatory, Respiratory||Skin, Bones, Muscle||Shortened life expectancy||Treatments Available||ACMG||ACOG||Victor Center|
|Duchenne and Becker muscular dystrophy|
|Sickle cell anemia|
|Spinal muscular atrophy|
|Tay Sachs Disease|
Our Essential panel screens for disorders recommended by the American College of Medical Genetics and Genomics (ACMG) and the American Congress of Obstetricians and Gynecologists (ACOG).
ACMG is a society of health professionals that strives to establish the best clinical and laboratory practices pertaining to genetic initiatives. In July 2013, ACMG published a list of recommendations for reporting findings in clinical DNA. With the goal of preventing morbidity and mortality, the list is comprised of inherited cancers as well as autosomal and X-linked diseases. See the full list and read more about how these conditions and genes were selected here. Each of these clinically relevant disorders are available on our customizable Avenir® panels. Inherited cancers on the ACMG list are tested on our Cancer Panel, while the remaining autosomal and X-linked disorders are screened on Avenir® Essential.
ACOG is an organization of medical specialists dedicated to the improvement of women’s health. In March 2017, ACOG released a Committee Opinion regarding carrier screening for genetic conditions. Detailed recommendations are available for specific conditions that are more common in the population. These include spinal muscular atrophy, Tay-Sachs disease, cystic fibrosis, and various hemoglobinopathies. See the full discussion about these diseases here. ACOG also suggests expanded genetic screening for individuals of Ashkenazi Jewish heritage; these conditions are tested on our Comprehensive panel.
By synthesizing the recommendations of these two groups, we have developed a genetic panel that screens for 23 of the most medically relevant genetic disorders in the United States.