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.|
|ARX||Heterozygous polyalanine expansions of >7 repeats (21bp) in the ARX gene in females may not be detected by this method.|
|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.|
|NEB||This gene contains a 32-kb triplicate region (exons 82-105) which is not amenable to sequencing and deletion/duplication analysis.|
|RPGR||This assay is capable of detecting most pathogenic variants in the critical "ORF15" region of the RPGR gene (NM_001034853.1). However, due to the complexity of this locus, currently available testing cannot completely rule out the presence of variants in a portion of this region: chrX(GRCh37):38144792-38146498.|
|SMN1||The current testing method detects sequencing variants in exon 7 and copy number variations in exons 7-8 of the SMN1 gene (NM_022874.2). Sequencing and deletion/duplication analysis are not performed on any other region in this gene. About 5%-8% of the population have two copies of SMN1 on a single chromosome and a deletion on the other chromosome, known as a [2+0] configuration (PubMed: 20301526). The current testing method cannot directly detect carriers with a [2+0] SMN1 configuration, but can detect linkage between the silent carrier allele and certain population-specific single nucleotide changes. As a result, a negative result for carrier testing greatly reduces but does not eliminate the chance that a person is a carrier. The 3-copy SMN1 state can be detected by this test and will be reported out if present.|
|TNXB||This gene is susceptible to significant pseudogene interference, particularly for exons 32-44 (NM_019105.6). Exons 33, 37, and 38 are not evaluated by this test. In addition, copy number analysis is not available for regions spanning exon 32-34 and 36-44. Sequencing variants detected in exons 32, 34-36, and 39-44 will be confirmed by long-range PCR and Sanger sequencing as an alternative methodology.|
|CPT Code||81408, 81406|