Clinical Cytogenetics Training Course

Lesson 1 • Chromosome Structure and Organisation

Covers chromatin packaging, centromere and telomere biology, and chromosome banding nomenclature. Establishes the structural vocabulary used throughout the course.

Lesson 2 • Genome Organisation and Variation

Introduces repetitive elements, copy number variants, and polymorphic regions. Prepares students to distinguish pathogenic variants from benign population variation.

Lesson 3 • Mendelian and Non-Mendelian Inheritance

Reviews autosomal and X-linked inheritance, imprinting, and uniparental disomy. Provides the genetic framework for interpreting cytogenetic findings clinically.

Lesson 1 • Biosafety Levels and Hazard Control

Defines biosafety classifications and required containment measures for human tissue. Ensures students can assess risk and select appropriate personal protective equipment.

Lesson 2 • Specimen Types and Accessioning

Covers blood, bone marrow, amniotic fluid, CVS, and tissue specimen requirements. Connects proper accessioning to downstream culture success and result accuracy.

Lesson 3 • Quality Management in the Laboratory

Introduces quality indicators, nonconformance tracking, and regulatory compliance concepts. Builds the documentation habits required for accreditation and audit readiness.

Lesson 1 • Chromosome Harvest Procedures

Details colcemid treatment, hypotonic shock, and fixation steps for metaphase preparation. Optimising each step directly determines spread quality and band resolution.

Lesson 2 • Specialised Culture Systems

Addresses amniotic fluid, chorionic villus, bone marrow, and solid tumour culture methods. Expands technical competency across the full range of clinical specimen types.

Lesson 3 • Slide Aging and Staining Optimisation

Explains slide aging, destaining, and restaining to maximise band resolution. Connects staining quality to accurate karyotype analysis and reporting.

Lesson 4 • Chromosome Banding Methods

Covers G-, Q-, R-, and C-banding protocols and their diagnostic applications. Each banding type reveals distinct chromosomal features used in specific clinical contexts.

Lesson 1 • Microscopy and Image Capture

Covers brightfield microscopy setup, oil immersion technique, and digital image acquisition. Proper microscopy technique is prerequisite to accurate chromosome analysis.

Lesson 2 • Structural Chromosome Abnormalities

Covers deletions, duplications, inversions, translocations, and marker chromosomes. Builds the analytical skills needed to characterise complex rearrangements accurately.

Lesson 3 • ISCN Nomenclature and Karyotype Writing

Applies current ISCN rules to describe numerical and structural abnormalities precisely. Standardised notation ensures unambiguous communication across laboratories and clinicians.

Lesson 4 • Chromosome Identification and Pairing

Teaches systematic identification of all 24 chromosome types by size, centromere position, and banding pattern. Accurate pairing is the foundation of karyotype construction.

Lesson 1 • Oncology FISH Applications

Addresses fusion, break-apart, and amplification probes used in haematologic and solid tumour diagnosis. Integrates FISH findings with morphology and clinical context.

Lesson 2 • Fluorescence Microscopy and Signal Scoring

Covers filter set selection, signal enumeration criteria, and normal signal pattern establishment. Accurate scoring requires defined cutoffs derived from normal control populations.

Lesson 3 • FISH Principles and Probe Types

Explains hybridisation kinetics, probe labelling chemistry, and probe categories. Understanding probe design is essential for selecting the correct assay for each clinical question.

Lesson 4 • FISH Hybridisation Protocol

Details slide pretreatment, probe application, co-denaturation, and post-hybridisation washes. Each step affects signal intensity and specificity critical for accurate scoring.

Lesson 1 • Variant Classification and Reporting

Applies evidence-based classification criteria to categorise CNVs as pathogenic, benign, or uncertain. Connects classification decisions to clinical reporting language and genetic counselling.

Lesson 2 • Microarray Platform Technologies

Compares array CGH and SNP array designs, probe density, and resolution capabilities. Platform selection directly affects the types of variants detectable in clinical practice.

Lesson 3 • Array Processing and Data Acquisition

Details hybridisation, washing, scanning, and raw data extraction steps. Consistent processing reduces technical noise that can obscure true copy number changes.

Lesson 4 • Copy Number Variant Analysis

Teaches log2 ratio interpretation, segmentation algorithms, and CNV calling. Accurate CNV calling requires integrating signal data with genomic context and database resources.

Lesson 1 • Minimal Residual Disease Monitoring

Applies FISH and karyotype to track treatment response and relapse in haematologic cancers. Connects cytogenetic monitoring to clinical decision-making and therapy adjustment.

Lesson 2 • Solid Tumour Cytogenetics

Addresses characteristic rearrangements in sarcomas, carcinomas, and paediatric tumours. Extends cytogenetic pattern recognition beyond haematology to solid tumour diagnostics.

Lesson 3 • Haematologic Malignancy Cytogenetics

Covers recurrent abnormalities in leukaemias, lymphomas, and myeloma with diagnostic and prognostic significance. Builds disease-specific pattern recognition essential for oncology reporting.

Lesson 4 • Integrated Oncology Reporting

Synthesises karyotype, FISH, and array data into a unified oncology cytogenetic report. Emphasises clinically actionable language and multidisciplinary communication.

Lesson 1 • Genetic Counselling Interface

Prepares cytogeneticists to communicate findings clearly to genetic counsellors and clinicians. Covers recurrence risk concepts, parental studies, and result disclosure practices.

Lesson 2 • Mosaicism Detection and Interpretation

Explains mosaic detection thresholds, tissue-specific mosaicism, and reporting challenges. Accurate mosaic interpretation requires integrating cell counts with clinical context.

Lesson 3 • Postnatal Constitutional Cytogenetics

Addresses indications and workflows for peripheral blood karyotyping in children and adults. Covers common constitutional syndromes identified postnatally.

Lesson 4 • Common Prenatal Chromosomal Findings

Identifies trisomies 21, 18, and 13, sex chromosome aneuploidies, and structural rearrangements in prenatal specimens. Connects cytogenetic findings to fetal phenotype and prognosis.