The ACOG/ACMG panel screens for the most common genetic disorders seen within the general population. Carrier screening for these disorders have been recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
Who Is This Test For?
This test is for individuals and couples who are interested in carrier screening. This test is not specific to any one population or ethnicity, although, some diseases are more common in certain ethnic groups. According to the American College of Obstetricians and Gynecologists, pregnant women and women considering pregnancy should be offered carrier screening. Individuals planning to become egg or sperm donors may be offered this carrier screening as well.
What Are the Benefits of Carrier Screening?
Carrier screening provides information to assist in preconception planning and prenatal diagnostic testing for couples identified as carriers. If both partners are found to be carriers for the same recessive disorder, then prenatal testing such as chorionic villi sampling (CVS) or amniocentesis could determine if the baby is affected with the recessive disorder or not to help manage a current or future pregnancy. Additionally, in vitro fertilization with preimplantation genetic diagnosis (PGD) may be considered to reduce the risk of having an affected child.
Our technology establishes Beacon as the most intensive carrier screening with the highest accuracy available.
- Sequence variants and small insertions/deletions: unless otherwise specified, whole gene sequencing (coding regions and adjacent intronic/splice regions) is performed with >99% of bases covered by at least 20 independent sequence reads (“20x”). Additionally, intronic and promoter mutations specified in ClinVar and the Human Gene Mutation Database (HGMD) are targeted with >98% sensitivity.
- Deletion/duplications (del/dup): copy number variants (also known as deletions/duplications, or del/dup for short) are detected using Pmcdx’s sophisticated bioinformatic algorithm, CNVexonTM. Pathogenic variants found by this method are confirmed by Sanger sequencing, MLPA, or quantitative PCR (qPCR).
- Fragile X: The trinucleotide repeat (CGG) expansion in the 5’ untranslated region of FMR1 is detected by repeat-primed PCR (rpPCR). Premutation carriers are sequenced by Sanger sequencing to detect AGG interruptions.
- Spinal Muscular Atrophy: copy number changes in the SMN1 gene are screened by NGS and confirmed by MLPA. Point mutations for spinal muscular atrophy are not detected due to high sequence homology.
- Pseudogenes: proprietary bioinformatics tools are employed to identify carrier mutations in disease genes (such as GBA for Gaucher disease and HBA1/HBA2 for alpha thalassemia) which have highly similar inactive counterparts.
Reporting options: Only variants classified as “Pathogenic” or “Likely Pathogenic” using the ACMG guidelines for sequence variant interpretation will be reported.
Detection rate: A broad range of laboratory and computational tools are employed to ensure the highest detection rate. The analytical detection rate for all genes is >98%.
*Male patients will not be screened for X-linked conditions (e.g., FMR1, etc.). If an X-linked condition is suspected in a male patient, please contact Pmcdx or a genetics professional about diagnostic testing for that particular disorder.