Related Experiment Video
Updated: Jan 25, 2026

Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets
Published on: November 29, 2024
Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders
Andrew D Mumford1, Sarah K Westbury1
1School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom.
Abstract:
Recent advances in genetic analysis are bringing huge benefits to patients with rare genetic disorders, including those with inherited disorders of platelet number and function. Modern clinical hematological practice now has a range of genetic techniques available to enable the precision diagnosis of inherited platelet disorders (IPDs). There are some features of this disparate group of inherited disorders that present specific challenges to establishing an accurate genetic diagnosis. This review aims to introduce the techniques that are relevant for the genetic diagnosis of IPDs and will discuss the key considerations necessary for their application to the clinic.
Related Concept Videos
Chromosomal Theory of Inheritance
Inheritance of Chromatin Structures
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Non-nuclear Inheritance
Inheritance
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype...
Animal Mitochondrial Genetics

