Personalized genetic diagnostics in oncology and other diseases
Personalized screening panel for oncological diseases
→ materials
tissue biopsy studies, blood-based liquid biopsy
→ Methodology
immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), next generation sequencing (NGS) of DNA or RNA
→ Models
Over 320 genes, mutation load analysis and microsatellite instability detection
→ Target
determination of the molecular profile for personalized maximum effective therapy, tolerance to therapy, early diagnosis of relapse
Preventive genetic panels
- Early diagnosis of cancer
- Determination of susceptibility to cardiovascular disease
- Determination of predisposition to thrombosis and bleeding disorders
- Predisposition to diseases associated with the accumulation of iron and copper
- Screening panel for disorders of fat metabolism
Diagnosis of genetic diseases
→ Models
database of 9.000 genetic diseases
→ Methodology
Next generation sequencing (NGS)
→ Diagnostic panels:
- neurological diseases
- cardiac diseases
- ophthalmic diseases
- diseases of the musculoskeletal system
- metabolic diseases
- hearing impairment
- kidney disease
- tumor formations
- immune defects
Pharmacogenomics
→ Methodology
Next generation sequencing (NGS)
→ Target
the appointment of effective drugs, taking into account the individual characteristics of the patient
→ Practical application in:
cardiology, oncology, psychiatry and in the treatment of infectious diseases
