Next-Generation Sequencing for the Analysis of Cancer Specimens
ABL1 EGFR GNAQ KRAS PTPN11 AKT1 ERBB2 GNAS MET RB1 ALK ERBB4 HNF1A MLH1 RET APC EZH2 HRAS MPL SMAD4 ATM FBXW7 IDH1 NOTCH1 SMARCB1 BRAF FGFR1 IDH2 NPM1 SMO…
PATHOLOGY & LABORATORY MEDICINE
Pharmacogenetics
Predicted CYP2D6 metabolism phenotype Implications for codeine metabolism Therapeutic recommendations Ultrarapid metabolizer (UM) Increased formation of morphine following codeine administration, leading to higher risk of toxicity Avoid codeine use due…
Neurodegenerative Disorders
Gene symbol Gene product Chromosomal location Key information Definitive disease-causing genes (causative mutations of early onset Alzheimer disease ) APP (AD1) Amyloid precursor protein 21q21.3 Autosomal dominant, 25 pathogenic mutations,…
Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh Incompatibility
Type OMIM# Gene Chr. Protein Inheritance Age of onset 1 235200 HFE 6p22.2 Hereditary Hemochromatosis Protein Autosomal recessive Adult 2A 602390 HJV 1q21.1 Hemojuvelin Autosomal recessive Child to young adult…
Multiple Endocrine Neoplasia Syndromes
Figure 25.1 Schematic representation of the MEN1 gene indicating the intron–exon organization, as well as the relative location, type, and distribution of germline mutations characterized in patients with MEN1. Functional…
Li-Fraumeni Syndrome
Figure 28.1 Tumor spectrum in individuals affected with LFS or LFL. The proportion of specific types of tumors among a total of 822 tumors reported in patients with LFS or…
Molecular Pathology Laboratory Management
Application Considerations Genetics Ethical issues (presymptomatic and prenatal testing) Consequences for family members Informed consent requirements Requirements for family-related information (ethnicity, pedigree, specimens) Time sensitivity (prenatal diagnosis) Complex risk-assessment calculations…
Molecular Pathology Methods
Figure 2.1 The polymerase chain reaction The hybridized PCR primers form local areas of double strandedness with the template DNA, thereby serving as sites for DNA polymerase to bind and…
Hepatitis B and C Viruses
Characteristic Hepatitis B virus Hepatitis C virus Type of virus Hepadnavirus Hepacivirus Viral genome 3.2 kb, relaxed circular, partially double-stranded DNA 9.5 kb, positive-sense, single-stranded RNA Routes of transmission Parenteral…
Neuromuscular Diseases
Figure 9.1 Multiplex DNA amplification of DMD exons 8, 13, 19, 45, and 47. Lane 1: normal control; lane 2: DMD patient with exon 13 deletion; lane 3: DMD patient…
