Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

Andrew D Mumford; Sarah K Westbury

doi:10.1055/s-0039-1687888

Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

Andrew D Mumford, Sarah K Westbury

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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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.

Original language	English
Journal	Seminars in Thrombosis and Hemostasis
Early online date	30 Apr 2019
DOIs	https://doi.org/10.1055/s-0039-1687888
Publication status	E-pub ahead of print - 30 Apr 2019

Keywords

High-throughput DNA sequencin
Diagnosis
Genetics
Platelets

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10.1055/s-0039-1687888

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This is the author accepted manuscript (AAM). The final published version (version of record) is available online via Thieme at https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0039-1687888 . Please refer to any applicable terms of use of the publisher.
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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.",

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AU - Westbury, Sarah K

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N2 - 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.

AB - 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.

KW - High-throughput DNA sequencin

KW - Diagnosis

KW - Genetics

KW - Platelets

U2 - 10.1055/s-0039-1687888

DO - 10.1055/s-0039-1687888

M3 - Article (Academic Journal)

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JO - Seminars in Thrombosis and Hemostasis

JF - Seminars in Thrombosis and Hemostasis

ER -

Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

Abstract

Keywords

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