AGMT case studies
AGMT · Put your knowledge to work in context.
The AGMT is a professional certification examination for laboratory and clinical personnel working in genetic testing and molecular diagnostics. It is designed for technologists, genetic technologists, laboratory supervisors, and molecular biology staff who perform, interpret, or oversee genetic tests across constitutional, somatic, and screening settings. The AGMT case studies are 5 cases and about 3,040 words.
1Trio Exome in a Consanguineous Family: Variant of Uncertain Significance in a Novel Gene
A 3-year-old boy presents with global developmental delay, hypotonia, and dysmorphic features. His parents are first cousins and healthy.
638 words, about 3 min2Non-Invasive Prenatal Testing (NIPT) for Microdeletions: High-Risk Result with Conflicting Follow-Up
A 35-year-old woman at 12 weeks gestation undergoes NIPT (cell-free DNA screening) that includes common microdeletions. The result is high risk for 22q11.2 deletion syndrome (positive predictive value ~50% in the general population, but higher in this case due to additional ultrasound findings).
505 words, about 3 min3Hereditary Cancer Panel: Variant of Uncertain Significance in a Young Breast Cancer Patient
A 32-year-old woman is diagnosed with triple-negative breast cancer. She has no family history of breast or ovarian cancer.
561 words, about 3 min4Quality Control Failure in a Clinical Exome Laboratory: Impact on Patient Care
A clinical exome sequencing laboratory has a monthly quality control (QC) review. They notice that the average coverage for a batch of 50 exomes is lower than usual: mean coverage 80x (previously 100x), and the percentage of bases covered at 20x is 92% (previously 95%).
758 words, about 4 min5Direct-to-Consumer Genetic Testing Results: A Patient with a BRCA1 Variant
A 45-year-old woman presents to her primary care physician with a report from a direct-to-consumer (DTC) genetic testing company. The report states she has a pathogenic variant in BRCA1 (c.68 69delAG, also known as 185delAG).
578 words, about 3 min