49. Molecular biology applications in the practice of clinical laboratories

From greek.doctor
  • Molecular biology methods
    • High sensitivity and specificity
    • Expensive
    • Real-time PCR
      • Visualization – fluorescent dyes, hybridization
    • DNA sequencing
      • Next generation sequencing
      • Whole exome sequencing
  • Benefit
    • Diagnosis
    • Prognosis
    • Therapy response
  • Monogenic disorders
    • Sickle cell anaemia
    • Thalassaemia
  • Microbiological assays
    • HepC
    • HepB
    • CMV
    • EBV
    • HSV
    • Gonorrhoea
  • Inherited conditions
    • Factor V Leiden
    • Prothrombin mutation
    • Gilbert syndrome (UGT)
    • Congenital metabolic disorders
    • NF1
    • CFTR
    • Neurodegenerative diseases
  • Pharmacogenomics
    • Polymorphisms in Pgp
    • CYP2C19 – clopidogrel
    • CYP2C9, VKORC1 – warfarin
    • TPMT – azathioprine