This panel is inclusive of 113 genes, 86 of which were derived from the gnomAD data as having a carrier frequency of 1 in 200 or higher 11 additional genes were “highly represented in one or more patient populations and have potential to be underrepresented in gnomAD” and 16 genes associated with X-linked conditions with a prevalence of 1 in 40,000 or higher.ĪCMG recommends against using the Tier 1 or Tier 2 panel for any patient. The guideline recommends that all patients who are pregnant or are considering pregnancy be offered the “Tier 3” panel, and that reproductive partners may also be offered the Tier 3 panel simultaneously. The goal of this ACMG recommendation was to define a standard panel that could be offered to all patients. The carrier frequencies utilized are based on the public database gnomAD and represent carrier frequencies for any subpopulation that makes up at least 1% of the United States total population. The guideline defines 4 tiers of carrier screening: Carrier Screening Tiers defined in the ACMG Practice resource, Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). With this post I have a practical question regarding implementation: How does one order a carrier screening panel of these ACMG-recommended genes when such a panel does not exist?Ī quick recap of the ACMG carrier recommendation. In a prior post, Bob Resta and I shared our concerns regarding ethical issues and the ways in which this panel was designed. The gist of this recommendation is that all individuals who are considering pregnancy or who are pregnant should be offered a carrier screening panel inclusive of 113 specific genes. In July 2021, the American College of Medical Genetics and Genomics published a new carrier screening guideline, Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). A paragraph has been added to reflect Fulgent’s test offering. While the list of labs surveyed for this post was not intended to include all labs that offer carrier screening, it has been noted since this was initially posted that Fulgent does offer a carrier screening panel based on the ACMG Tier 3 recommendation. Table and graph were updated to reflect this. First – the original post did not account for the fact that ELP1 is reported out as IKBKAP by Natera, SEMA4 and Quest. This post was modified on with input presented by some DNA Exchange readers.
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