Related Experiment Video
Updated: May 12, 2026
08:01
The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well
Published on: February 27, 2026
Molecular testing for disorders of hemostasis
1Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University, Kingston, Ontario, Canada. dpl@queensu.ca
International Journal of Laboratory Hematology
|April 18, 2013
Summary
Routine hemostasis tests diagnose most inherited bleeding disorders. Molecular testing is crucial for complex cases, prenatal diagnosis, carrier detection, and identifying new genetic causes in undiagnosed patients.
Area of Science:
- Hematology
- Genetics
- Molecular Diagnostics
Background:
- Routine hemostasis testing diagnoses most inherited bleeding disorders, especially with severe symptoms and family history.
- A significant number of patients with bleeding symptoms remain undiagnosed despite extensive testing.
Purpose of the Study:
- To outline the expanded role of molecular testing in diagnosing inherited bleeding disorders.
- To highlight molecular testing's utility in confirming diagnoses, identifying phenocopies, and enabling prenatal/carrier screening.
- To explore genome-wide approaches for novel genetic discoveries in unexplained bleeding cases.
Main Methods:
- Targeted genetic analysis for diagnosis confirmation.
- Molecular analysis for distinguishing bleeding phenocopies.
- Genetic testing for prenatal diagnosis and carrier state detection.
- Genome-wide association studies for identifying novel genetic links.
Main Results:
- Molecular testing confirms diagnoses and differentiates phenocopies.
- Genetic testing is essential for prenatal and carrier screening.
- Genome-wide studies offer potential for diagnosing previously unexplained bleeding disorders.
Conclusions:
- Molecular testing is indispensable for comprehensive diagnosis and management of inherited bleeding disorders.
- It plays a key role in genetic counseling, prenatal diagnosis, and carrier detection.
- Emerging genome-wide techniques promise to unravel the genetic basis of unexplained bleeding conditions.
More Related Videos
Related Concept Videos
01:24Disorders of Hemostasis
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
01:20Extrinsic and Intrinsic Pathways of Hemostasis
Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which forms a...
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which forms a...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:29Modern Molecular Taxonomy
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
01:05Introduction to Hemostasis
Hemostasis is a complex physiological process that prevents excessive bleeding when a blood vessel is injured. It's crucial for maintaining the integrity of the circulatory system, as it ensures that our blood remains fluid while still within the vascular network and yet clots to prevent blood loss upon vessel injury.
The three phases of hemostasis involve many clotting factors present in plasma and several substances released by platelets and injured tissue cells. It is a fast, localized, and...
The three phases of hemostasis involve many clotting factors present in plasma and several substances released by platelets and injured tissue cells. It is a fast, localized, and...