AGMT study guide
AGMT · Work through your exam, one topic at a time.
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 study guide has 8 sections and about 2,267 words.
01Genetic Testing Technologies and Methodologies
Candidates must know the main assay families and what each is designed to detect: PCR/Sanger sequencing (single-site or short-fragment, gold standard for confirming a known variant), qPCR and MLPA (copy-number dosage at targeted loci), karyotyping (balanced and unbalanced structural change, ~5–10 Mb resolution), FISH (locus-specific, rapid, on interphase or metaphase cells), chromosomal microarray/CMA (genome-wide copy number and absence of heterozygosity at kb resolution; does not detect balanced rearrangements), next-generation sequencing panels, exomes and genomes, and expansions assays (repeat-primed PCR, Southern blot). Understand the trade-offs: breadth of coverage versus depth, detection of mosaicism, turn-around time, and the variant classes each method cannot see.
323 words, about 2 min02Molecular Genetics and Genomics
Know the central dogma in operational terms: transcription, splicing, translation, and how each step can be disrupted. Be fluent in variant nomenclature (HGVS: c.
290 words, about 1 min03Cytogenetics
Master the karyotype nomenclature (ISCN) : p and q arms, band numbering, and the meaning of common designations such as 46,XX , 47,+21 , 45,X , 46,XY,t(9;22)(q34;q11.2) , del(5p) , inv , dup , and ish / arr prefixes. Understand resolution limits , the difference between balanced and unbalanced rearrangements, mosaicism (and how it is expressed as a ratio in ISCN), and Robertsonian vs reciprocal translocations .
291 words, about 1 min04Inheritance Patterns and Genetic Risk Assessment
Be able to recognize and apply autosomal dominant, autosomal recessive, X-linked (dominant and recessive), mitochondrial, and imprinting inheritance, plus de novo events, gonadal mosaicism , incomplete penetrance , variable expressivity , and anticipation (repeat expansions). Understand Hardy–Weinberg principles , carrier frequency , Bayesian risk calculation , and recurrence risk for each pattern.
292 words, about 1 min05Clinical Applications of Genetic Testing
Understand indications for testing across the lifespan: prenatal (aneuploidy screening, cfDNA/NIPT, diagnostic amniocentesis/CVS), pediatric (developmental delay, congenital anomalies, metabolic disorders), adult (hereditary cancer, cardiovascular, neurodegenerative), and pharmacogenomics . Know screening vs diagnostic distinctions and the limitations of each.
243 words, about 1 min06Laboratory Quality Management and Regulatory Compliance
Know the quality framework: CLIA (US clinical laboratory certification), CAP accreditation , ISO 15189 , and applicable regulations such as HIPAA and GINA . Understand quality control (QC) vs quality assurance (QA) , proficiency testing (PT) , validation vs verification , analytic validity , clinical validity , and clinical utility .
275 words, about 1 min07Bioinformatics and Data Interpretation
Understand the NGS pipeline : library prep, sequencing, base calling, alignment to a reference genome, variant calling, annotation, and filtering . Know coverage/depth , read quality (Q scores) , mapping quality , variant allele fraction (VAF) , and how these affect confidence.
274 words, about 1 min08Ethical, Legal, and Social Issues in Genetics
Understand informed consent , confidentiality , privacy , and the return of results - including incidental/secondary findings and the patient's right to opt in or out. Know GINA (US Genetic Information Nondiscrimination Act) protections for health insurance and employment, and its limits (does not cover life, disability, or long-term care insurance; does not cover all employers).
279 words, about 1 min