Molecular diagnosis

The different types of molecular diagnosis will be approached from exemples of pathologies involving different types of mutational events. 

- Generalities, types of mutations,  nomenclature

- serach for unique point mutation (ex: hemochromatosis) -

- Gene sequencing, detection of intragenic deletion or duplication  (cystic fibrosis, breast cancer)

- Mendeliome, exome and whole genome sequencing (mental retardation)

- Trilplet expansion diseases (Huntington, fragile X, Steinert)

- Gene methylation (ex: Prader Willi - Angelman)

- Microsatellite instability (HNPCC)

- Gene expression  (ex: BCL1 in  lymphoma)

- Monoclonality (ex:  B/T récepteurs in lymphoma)

- Non invasif prenatal test

- Paternity or maternity testing

- Nuclear and  mitochondrial profile

- Pathogene detection (HPV, SARS CoV2, ...)
- ...