Diagnostic Genetic Testing

Chapter 1: Genetic testing, some themes and some basics

- Brief introduction to genetic testing.

- Themes

o Complexity

o Risk and uncertainty

o DNA and identities

o Future promises and limitations

- Genetic basics

o Information storage and copying

o Chromosomes and inheritance patterns

o Genes in genomes (nuclear and mitochondrial)

o Transcription, translation and the genetic code

o Mutation

- Basic techniques of genetic testing

o DNA extraction

o Hybridisation

o PCR and DNA amplification

o Electrophoresis

o DNA sequencing

Chapter 2: Huntington disease, a severe autosomal recessive disorder

- Huntington disease (HD)

- Mutation mechanism and gain of function

- Trinucleotide repeat expansions

- Penetrance and genotype/phenotype correlation

- Anticipation

- Testing for HD and test metrics

- Rationales for testing

- Laboratory error

- Ethical problems (sharing information)

Chapter 3: Autosomal recessive inheritance and cystic fibrosis

- Cystic fibrosis (CF)

- Spectrum of mutations

- Recessive disorders in populations (founder effect)

- Testing for CF

- Rationales for testing including neonatal screening

- Prenatal diagnosis and ethical issues

- Genetics and therapy for CF

- Risk and uncertainty

Chapter 4: X-linked inheritance: a question of gender

- Chromosome number / balance (XX vs. XY) and X-inactivation

- DNA methylation and epigenetics

- DMD/BMD (genotype/phenotype correlation)

- Mosaicism

- Sharing genetic information

- Androgen receptor gene and different phenotypes

- Genetics and gender

Chapter 5: Cancer genetics: acquired and inherited mutations

- Cancer as a genetic disease

- Tumour suppressors and oncogenes in the control of growth

- Somatic/germline distinction

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