1. General Pathology
    2. 1. The Cell as a Unit of Health and Disease
    2. Cellular Response to Stress and Toxic Insults
    3. Inflammation and Repair
    4. Hemodynamic Disorders, Thromboembolic Disease, and Shock
    5. Genetic Disorders
    6. Diseases of the Immune System
    7. Neoplasia
    8. Infectious Diseases
    9. Environmental and Nutritional Diseases
    10. Diseases of Infancy and Childhood
  2. Systemic Pathology: Diseases of Organ Systems
    3. 11. Blood vessels
    12. The Heart
    13. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus
    14. Red Blood Cell and Bleeding Disorders
    15. The Lung
    16. Head and Neck
    17. The Gastrointestinal Tract
    18. Liver and Gallbladder
    19. The Pancreas
    20. The Kidney
    21. The Lower Urinary Tract and Male Genital System
    22. The Female Genital Tract
    23. The Breast
    24. The Endocrine System
    25. The Skin
    26. Bones, Joints, and Soft Tissue Tumors
    27. Peripheral Nerves and Skeletal Muscles
    28. The Central Nervous System
    29. The Eye
General Pathology
5. Genetic Disorders
GENES AND HUMAN DISEASES
Mutations
Mendelian Disorders
Transmission Patterns of Single-Gene Disorders
Autosomal Dominant Disorders
Autosomal Recessive Disorders
X-Linked Disorders
Biochemical and Molecular Basis of Single-Gene (Mendelian) Disorders
Enzyme Defects and Their Consequences
Defects in Receptors and Transport Systems
Alterations in Structure, Function, or Quantity of Nonenzyme Proteins
Genetically Determined Adverse Reactions to Drugs
Disorders Associated with Defects in Structural Proteins
Marfan Syndrome
Ehlers-Danlos Syndromes (EDS)
Disorders Associated with Defects in Receptor Proteins
Familial Hypercholesterolemia
Disorders Associated with Defects in Enzymes
Lysosomal Storage Diseases
Glycogen Storage Diseases (Glycogenoses)
Disorders Associated with Defects in Proteins That Regulate Cell Growth
COMPLEX MULTIGENIC DISORDERS
CHROMOSOMAL DISORDERS
Normal Karyotype
Structural Abnormalities of Chromosomes
Cytogenetic Disorders Involving Autosomes
Trisomy 21 (Down Syndrome)
Other Trisomies
Chromosome 22q11.2 Deletion Syndrome
Cytogenetic Disorders Involving Sex Chromosomes
Klinefelter Syndrome
Turner Syndrome
Hermaphroditism and Pseudohermaphroditism
SINGLE-GENE DISORDERS WITH NONCLASSIC INHERITANCE
Diseases Caused by Trinucleotide-Repeat Mutations
Fragile X Syndrome and Fragile X Tremor/Ataxia
Mutations in Mitochondrial Genes—Leber Hereditary Optic Neuropathy
Genomic Imprinting
Prader-Willi Syndrome and Angelman Syndrome
Gonadal Mosaicism
MOLECULAR GENETIC DIAGNOSIS
Diagnostic Methods and Indications for Testing
Laboratory Considerations
Indications for Analysis of Inherited Genetic Alterations
Indications for Analysis of Acquired Genetic Alterations
PCR and Detection of DNA Sequence Alterations
Molecular Analysis of Genomic Alterations
Fluorescence in Situ Hybridization (FISH)
Multiplex Ligation-Dependent Probe Amplification (MLPA)
Southern Blotting
Cytogenetic Array Technology
Polymorphic Markers and Molecular Diagnosis
Polymorphisms and Genome-Wide Analyses
Epigenetic Alterations
RNA Analysis
Next-Generation Sequencing
Bioinformatics
Clinical Applications of NGS DNA Sequencing
Future Applications