Carrier Screening for Genetic Disorders

Carrier screening for certain disorders is traditionally offered to individuals and couples based on ethnicity and family history of specific genetic conditions. Professional organizations, including the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG), provide varying recommendations for carrier screening of disorders like cystic fibrosis, fragile X syndrome, and spinal muscular atrophy (SMA). ARUP Laboratories offers several carrier screening testing options, including targeted mutation panels that screen for specific disorders, and expanded carrier screening panels by next generation sequencing and genotyping.

Tabs Content
Content Review: 
February 2018

Last Update: October 2019