2. Common Disorders/Screening (CF, Hemophilia, Hemoglobin Disorders, Venous Thromboembolism) Ondemand-M02 GFeldman Common Disorders

M02 GFeldman Common Disorders

Pdf Summary

This document discusses various genetic disorders related to laboratory genetics and genomics, focusing on the molecular diagnosis of common disorders. It begins by explaining the difference between diagnostic testing and carrier screening, with an emphasis on expanded carrier screening. The document then explores the pathogenesis and molecular genetic testing for common single gene disorders such as cystic fibrosis, hemoglobinopathies, hemophilia, and inherited thrombophilias. It discusses the residual risk calculation and the methodologies used in molecular genetics testing, including mutation panels, gene sequencing, and single mutation analysis.<br /><br />The document highlights the importance of carrier screening and its recommended use in identifying couples at risk of passing on genetic conditions. It also mentions the availability of carrier testing for other family members once a mutation is identified. The document explains the significance of preconception planning and prenatal diagnosis in couples at risk.<br /><br />The document provides examples of ethnic-specific carrier screening, such as the Ashkenazi Jewish screening for disorders like cystic fibrosis, Tay Sachs disease, and familial dysautonomia. It also presents a case study on cystic fibrosis and provides information on the clinical features, carrier screening, and residual risk calculation for this disorder.<br /><br />The document briefly discusses hemoglobinopathy, including sickle cell disease, hemoglobin C disease, α-thalassemia, β-thalassemia, and hemoglobin E. It explains the molecular basis of these disorders and their clinical features. The document also includes a case study on coagulation disorders, particularly deep vein thrombosis, inherited thrombophilias, and the genetic mutations associated with them, such as Factor V Leiden, Prothrombin 20210A, and MTHFR.<br /><br />Overall, this document provides a comprehensive overview of the molecular diagnosis of common genetic disorders related to laboratory genetics and genomics. It provides valuable information on diagnostic testing, carrier screening, and the molecular basis of various disorders.

Keywords

genetic disorders

molecular diagnosis

diagnostic testing

carrier screening

cystic fibrosis

hemoglobinopathies

hemophilia

inherited thrombophilias

residual risk calculation

molecular genetics testing