Genetic Testing Modalities

⏱️ 30 mins read 📖 Genetics 🎯 MLA Relevance: High

Genetic testing modalities include karyotyping, FISH, microarray (CMA), Sanger sequencing, next-generation sequencing (NGS), whole exome and whole genome sequencing.

📌 Learning Objectives

Describe the underlying mechanism of Genetic Testing Modalities.
Identify the key clinical features and complications of Genetic Testing Modalities.
Outline the appropriate investigations and management of Genetic Testing Modalities.
Discuss the implications for patients and families of Genetic Testing Modalities.

📋 Overview

Choice depends on the clinical question: aneuploidy → karyotype; microdeletion → CMA/FISH; single gene → Sanger/targeted panel; broad phenotype → exome/genome.

🔬 Basic Science

Choice depends on the clinical question: aneuploidy → karyotype; microdeletion → CMA/FISH; single gene → Sanger/targeted panel; broad phenotype → exome/genome.

🏥 Clinical Relevance

All testing requires informed consent and consideration of incidental findings.

🧪 Investigations

Investigation depends on clinical context: relevant blood tests, imaging, and specific genetic or histopathological tests as appropriate. Refer to specialist services where indicated.

💊 Management

Management is condition-specific and typically multidisciplinary, combining medical therapy, surgical intervention where appropriate, supportive care, and family/genetic counselling.

Revision Resources – expand the sections below for high-yield notes, exam pearls, key facts and further reading.

🎯 MLA High-Yield Notes & Quick Revision ⌄

Common SBA themes: recognising the underlying mechanism, identifying classic clinical features, and choosing the first-line investigation or management step. Watch for inheritance pattern and characteristic associations.

genetic testing karyotype fish cma ngs

Karyotype detects large numerical and structural abnormalities (~5 Mb resolution).
FISH detects specific microdeletions/duplications using fluorescent probes.
Chromosomal microarray (CMA) detects copy number variants below karyotype resolution.
NGS panels are first-line for many heterogeneous Mendelian disorders.
Whole genome sequencing is delivered via the NHS Genomic Medicine Service.

⭐ Exam Pearls ⌄

⭐ High Yield

Karyotype detects large numerical and structural abnormalities (~5 Mb resolution).

FISH detects specific microdeletions/duplications using fluorescent probes.

Chromosomal microarray (CMA) detects copy number variants below karyotype resolution.

NGS panels are first-line for many heterogeneous Mendelian disorders.

Whole genome sequencing is delivered via the NHS Genomic Medicine Service.

💡 Clinical Pearl

Genetic Testing: All testing requires informed consent and consideration of incidental findings.

⚠️ Exam Tip — Common Mistakes

Confusing the mechanism of Genetic Testing Modalities with related conditions.

Missing classic clinical features of Genetic Testing Modalities in SBA stems.

Failing to consider Genetic Testing Modalities in the differential diagnosis.

🔑 Key Facts ⌄

Karyotype detects large numerical and structural abnormalities (~5 Mb resolution).

FISH detects specific microdeletions/duplications using fluorescent probes.

Chromosomal microarray (CMA) detects copy number variants below karyotype resolution.

NGS panels are first-line for many heterogeneous Mendelian disorders.

Whole genome sequencing is delivered via the NHS Genomic Medicine Service.

🔗 Related Topics ⌄

📚 References ⌄

GMC MLA Content Map
NICE Clinical Knowledge Summaries
BMJ Best Practice

Further Resources

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