Beacon ACMG Tier 3 Female Carrier Screening Panel
The Beacon ACMG Tier 3 Carrier Screening Panel is a pan-ethnic carrier screen for more than 100 autosomal recessive and X-linked conditions. This panel exclusively includes genes included in the 2021 ACMG Practice Resource for screening for autosomal recessive and X-linked conditions during pregnancy and preconception.
Our technology establishes Beacon as the most intensive carrier screening with the highest accuracy available.
|AFF2||The current testing method does not assess trinucleotide repeat expansions in this gene. Unless otherwise specified above, only sequence variants and copy number changes in this gene are tested.|
|F8||The current testing method does not include detection of intron 1/intron 22 inversions in the F8 gene. This detection is available upon request.|
|FXN||The FXN gene mutations most commonly associated with disease are expansions of a GAA trinucleotide repeat sequence. Only sequence variants and copy number changes in this gene are tested as part of this test unless specifically noted above. Repeat expansion testing may be warranted if the clinical presentation of the patient is specific for a condition associated with this gene.|
|CPT Code||81408, 81406|