485 Autosomal and X-linked Diseases
|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 top tier genetic panel is our most inclusive carrier screen, which tests for 485 unique genetic diseases that affect virtually every system in the body. Avenir® Comprehensive assesses your carrier status for 361 autosomal disorders and 124 X-linked conditions.
For X-linked conditions, testing the mother’s DNA is sufficient to evaluate risk of having an affected child. Screening for X-linked disorders is a crucial step for patients opting for an egg donor. If the mother or egg donor is a carrier for an X-linked disease, there is a 50% chance she will pass on her mutated copy of the gene to any of her children. Females who inherit one defective copy will still possess one healthy copy from their father; these female carriers generally exhibit very mild or no symptoms of the disease. However, males who inherit a mutated copy possess no healthy copies of the gene, and will be affected with the disease.
Some inherited disorders affect certain populations more frequently than others. Our Comprehensive panel offers an extensive carrier screening for those of Ashkenazi descent, testing over 30 genes recommended by the Victor Center for the Prevention of Jewish Genetic Diseases.
Avenir® Comprehensive is the premier choice for patients seeking to evaluate their carrier status for genetic disorders.