Genetic Testing (Eastern Biotech & Life Sciences)

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Eastern Biotech is offering all kinds of Genetic Testing Services.

Eastern Biotech is offering all kinds of Genetic Testing Services.

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  • 1. Genetic Diagnostics
    • Cytogenetic tests
    • FISH
    • Molecular tests
  • 2. Molecular Diagnostics
    • Diagnosis of infectious diseases
    • Genetic identification
    • Diagnosis of genetic diseases
  • 3. Diagnosis of infectious diseases
    • HPV
    • Chlamydia
    • Hepatitis
    • HIV
    • Toxoplasmosis
  • 4. Genetic Identification
    • - Paternity Testing
    • - Forensics
  • 5. Paternity Testing
  • 6. Forensic testing
  • 7. Diagnosis of genetic diseases
    • - Somatic rearrangements in cancer
    • - Genetic risk factors
    • Pharmacogenetics
    • - Mutations in monogenic diseases
  • 8. Rearrangements in Cancer Cells Chromosomal breaks produce fusion genes These cause leukemias and lymphomas D iagnosis determines treatment and prognosis
  • 9. Rearrangements in Cancer Cells
    • Lymphocytic Leukemia
    • t(9;22) : BCR - ABL
    • t(12;21) : TEL - AML1
    • t(1;19) : E 2 A - PBX1
    • t(4;11) : MLL - AF4
    • Myeloid Leukemia
    • Inv(16) : CBF - MYH11
    • t(8;22) : AML - ETO
    • t(9;22) : BCR - ABL
  • 10. Diagnosis of genetic diseases
    • - Somatic rearrangements in cancer
    • - Genetic risk factors
    • Pharmacogenetics
    • - Mutations in monogenic diseases
  • 11. Genetic Risk Factors
    • Monogenic diseases are caused by a
    • deleterious mutation in a single gene:
    • Disease-causing mutations
    • Multifactorial diseases are caused by a
    • combination of variations in multiple genes:
    • Genetic Risk Factors
  • 12. Genetic Risk Factors
    • Deep venous thrombosis
    • Cardiovascular disease
    • Alzheimer disease
    • Osteoporosis
  • 13. Genetic Risk Factors
    • Most single risk factors
    • have NO clinical significance
    • in individual patients
  • 14. Genetic Risk Factors
    • Deep venous thrombosis
            • Factor V
            • Factor II
            • MTHFR
  • 15. Diagnosis of genetic diseases
    • - Somatic rearrangements in cancer
    • - Genetic risk factors
    • Pharmacogenetics
    • - Mutations in monogenic diseases
  • 16. Pharmacogenetic tests
    • Drug specificity
    • Drug efficacity - toxicity
  • 17. Drug specificity
    • Herceptin : HER2
    • Tyrosine kinase inhibitors
            • BCR / ABL
            • KIT
            • PDGFR A/B
            • EGFR
  • 18. Drug efficacity / toxicity
    • Cytochromes
    • CYP2D6
    • CYP2C9
    • CYP2C19
  • 19. Diagnosis of genetic diseases
    • - Somatic rearrangements in cancer
    • - Genetic risk factors
    • Pharmacogenetics
    • - Mutations in monogenic diseases
  • 20. Diagnostic bottle necks
    • Number of diseases
    • Nature of disease mutation
    • Technology
    • Cost
    • Number of samples
    • Organisation
  • 21. Monogenic Diseases
    • > 4.000 monogenic diseases
    • > 2.000 disease genes isolated
  • 22. Gene testing
    • Most countries : limited number
    • (< 50 genes)
    • Few countries : large number
    • (300-500 genes)
    • Nowhere : network complete availability
    • (> 1000 genes)
  • 23. Diagnostic bottle necks
    • Number of diseases
    • Nature of disease mutation
    • Technology
    • Cost
    • Number of samples
    • Organisation
  • 24. Disease Mutations
    • Easy tests : Single - common mutations
    • Difficult tests : Private mutations
  • 25. Disease Mutations
    • Single mutations Fragile X Sickle Cell Anemia
    • Common mutations Deafness Hemochromatosis
    • Panel of mutations Cystic Fibrosis
    • Private mutations Breast Cancer
    • Colorectal cancer
  • 26. Easy tests 1 exon HBB Beta thalassemia 1 common mutation SMN1 Spinal muscular atrophy 1 common mutation HBB Sickle cell anemia 1 common mutation PMP22 Hereditary neuropathy (HNPP) 2 common mutations HFE Hemochromatosis type1 1 common mutation GJB2 Deafness Common mutations CFTR Cystic fibrosis 1 common mutation PMP22 Charcot-Marie-Tooth Type 1A 2 common mutations PI Alpha 1 antitrypsin Repeat SCA1,2, 3, 6, 7, 8,10, 12,17 Spinocerebellar ataxia Repeat DMPK Myotonic dystrophy type 1 Repeat AR Kennedy Repeat HD Huntington type 1 Repeat DRPLA Haw River Repeat FRDA Friedreich ataxia Repeat FMR2 FRAXE Repeat FMR1 Fragile X Mutation Gene Disease
  • 27. Difficult tests Private MSH6 Private MSH2 Private MLH1 Colon cancer Private BRCA2 Private BRCA1 Breast cancer Mutation Gene Disease
  • 28. BRCA testing
    • BRCA1 : 23 exonen, 1863 AA, 6.200 bp
    BRCA2 : 28 exonen, 3418 AA, 10.300 bp Totaal : > 17.000 bp sequence
  • 29. Diagnostic bottle necks
    • Number of diseases
    • Nature of disease mutation
    • Technology
    • Cost
    • Number of samples
    • Organisation
  • 30. Mutation Detection
    • 1. Point mutations, frame shifts :
    • A. Sequencing
    • B. WAVE
    • 2. Deletions : MLPA
  • 31. Diagnostic bottle necks
    • Number of diseases
    • Nature of disease mutation
    • Technology
    • Cost
    • Number of samples
    • Organisation
  • 32. Cost
    • Single mutations : cheap
    • Prevalent mutations : cheap
    • Panel of mutations : moderate
    • Private mutations : expensive
  • 33. Cost
    • Socioeconomic situation
    • Social security
    • Reimbursement by insurance
  • 34. Diagnostic bottle necks
    • Number of diseases
    • Nature of disease mutation
    • Technology
    • Cost
    • Number of samples
    • Organisation
  • 35. Common genetic diseases Easy / cheap Only 1 exon HBB variable variable Beta Thalassemia Easy / cheap Only 1 mutation SMN1 1 / 10.000 1 / 10.000 SMA Easy / cheap Only 1 mutation FMR1 1 / 5.000 1 / 5.000 Fragile X syndrome Easy / cheap 1 common mutation GJB2 1 / 4.000 1 / 1.500 Prelingual deafness Easy / cheap Common mutations CFTR 1 / 2.500 1 / 2.500 Cystic fibrosis Complicated / expensive Mutations in 19 exons Mutations in 16 exons Mutations in 10 exons Mutations in 15 exons Mutations in 16 exons MLH1 MSH2 MSH6 APC MUTYH 1 / 1.000 1 / 25 Colorectal Cancer Complicated / expensive Mutations in 16 exons LDLR 1 / 750 1 / 500 Hypercholesterolemia Complicated / expensive Mutations in 23 exons Mutations in 28 exons BRCA1 BRCA2 1 / 500 1 / 20 Breast Cancer Easy / cheap 2 common mutations HFE 1 / 400 1 / 600 Hemochromatosis Conclusion Mutations Genes Mutation Frequency Disease
  • 36. Most frequent DNA tests
    • Thalassemia
    • Cystic fibrosis
    • Breast cancer
    • Colorectal cancer
    • FRAXE
    • SCA
    • F5 Leiden