Our Panels

The Beacon ACOG/ACMG panel screens for the most common genetic disorders seen within the general population. Carrier screening for these disorders has been recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) and testing should be offered to all pregnant individuals and those considering pregnancy.

Large carrier screening panels are not the right choice for everyone. The Beacon Focus Carrier Screening is a pan-ethnic screening panel that analyzes 30 genes for pathogenic variants known to cause autosomal recessive and X-linked disorders seen at high carrier frequencies within the general population and within a few specific populations. The tested conditions vary in morbidity, mortality, and treatment.

The Beacon Ashkenazi Jewish carrier screening panel analyzes genes for pathogenic carrier variants known to cause recessive genetic disorders seen at high carrier frequencies within the Ashkenazi Jewish population, as well as Fragile X Syndrome, hemoglobinopathies, and spinal muscular atrophy.

The Beacon ACMG Tier 3 carrier screening panel is a pan-ethnic screen of 113 genes known to be associated with autosomal recessive and X-linked conditions, as recommended by ACMG. ACMG recommends all pregnant individuals and those considering pregnancy be offered Tier 3 carrier screening.

The Beacon Expanded Panel screens for more than 400 recessive and X-linked conditions that cover people of all ethnic backgrounds. Our lab receives samples from all over the world and since there are many diasporic communities in the United States, what may be rare to one person may be common to another. Most of the diseases included have a significant impact on morbidity and mortality, or daily activities.

The Beacon Expanded Panel screens for more than 400 recessive and X-linked conditions that cover people of all ethnic backgrounds. All genes from the Beacon Expanded Carrier Screening panel are included with the addition of 9 “opt-in” genes that are associated with mild or adult-onset presentation of disease, but may be of interest to specific families or clinics.

The Beacon 787-Expanded carrier screening panel provides an extensive evaluation regarding pan-ethnic genetic risks for people who are pregnant or planning to become pregnant in the future. This panel includes 787 autosomal recessive and X-linked disorders including all 113 ACMG tier 3 genes and many additional conditions that may have severe presentations.