ABMGG LGG case studies
ABMGG LGG · Put your knowledge to work in context.
The ABMGG Laboratory Genetics and Genomics (LGG) Certification Examination is the initial certification examination offered by the American Board of Medical Genetics and Genomics, a board whose stated mission is "to serve the public and medical profession by establishing professional certification standards and promoting lifelong learning as well as excellence in medical genetics and genomics." The LGG credential is intended for physicians and laboratory scientists who have completed ABMGG-accepted training in genetics and genomics and who seek board certification in the laboratory genetics and genomics specialty. Candidates should treat the ABMGG Initial Certification section as the authoritative hub: the Content Outlines and Blueprints page defines the knowledge domains and the relative emphasis of each, while the Certification Exam pages (Dates & Fees, Application Requirements, Exam Requirements, Testing Process, On Exam Day, Scoring) govern logistics. The ABMGG LGG case studies are 5 cases and about 2,697 words.
1Prenatal Microarray With a Variant of Uncertain Significance and a Noisy Phenotype
A 34-year-old G2P1 woman at 20 weeks undergoes amniocentesis for a fetal cardiac defect (ventricular septal defect plus overriding aorta on ultrasound) and a two-vessel cord. Chromosomal microarray on amniocytes reports a 410 kb interstitial deletion at 15q13.3 involving CHRNA7, classified by the laboratory as a variant of uncertain significance.
627 words, about 3 min2A Secondary Finding in a Research Exome Returned to a Family
A 9-year-old boy is enrolled in a research exome study for undiagnosed developmental delay and hypotonia. The research protocol returns only variants in a defined list of actionable secondary-finding genes.
575 words, about 3 min3Mosaic Trisomy 21 on CVS With a Discordant Ultrasound
A 38-year-old G1 at 12 weeks undergoes chorionic villus sampling for advanced maternal age. Direct cytogenetic preparation (cytotrophoblast) shows 47,XX,+21 in 6 of 20 cells; cultured villi (mesenchymal core) show 46,XX in 20 of 20 cells.
554 words, about 3 min4A Familial Variant of Uncertain Significance in a Cancer Susceptibility Gene
A 45-year-old woman with bilateral breast cancer (diagnosed at 38 and 44) undergoes a multi-gene hereditary cancer panel. Testing identifies a missense variant in PALB2 (c.3056C T, p.Thr1019Ile) classified as a variant of uncertain significance.
483 words, about 2 min5Incidental Finding of a Balanced Translocation in a Gamete Donor
A couple undergoing IVF with an anonymous oocyte donor learns that the donor's expanded carrier screening was negative, but the donor's clinic reports that a routine karyotype performed for another reason showed 46,XX,t(11;22)(q23;q11.2). The donor is reported to be healthy with no history of recurrent pregnancy loss.
458 words, about 2 min