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2016 ; 2016
(1
): 678-682
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Diagnosing von Willebrand disease: genetic analysis
#MMPMID27913546
Goodeve A
Hematology Am Soc Hematol Educ Program
2016[Dec]; 2016
(1
): 678-682
PMID27913546
show ga
Investigation of a patient with possible von Willebrand disease (VWD) includes a
range of phenotypic analyses. Often, this is sufficient to discern disease type,
and this will suggest relevant treatment. However, for some patients, phenotypic
analysis does not sufficiently explain the patient's disorder, and for this
group, genetic analysis can aid diagnosis of disease type. Polymerase chain
reaction and Sanger sequencing have been mainstays of genetic analysis for
several years. More recently, next-generation sequencing has become available,
with the advantage that several genes can be simultaneously analyzed where
necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A.
Additionally, several techniques can now identify deletions/duplications of an
exon or more that result in VWD including multiplex ligation-dependent probe
amplification and microarray analysis. Algorithms based on next-generation
sequencing data can also identify missing or duplicated regions. These newer
techniques enable causative von Willebrand factor defects to be identified in
more patients than previously, aiding in a specific VWD diagnosis. Genetic
analysis can also be helpful in the discrimination between type 2B and
platelet-type VWD and in prenatal diagnosis for families with type 3.
|*Base Sequence
[MESH]
|*Sequence Deletion
[MESH]
|*von Willebrand Disease, Type 2/diagnosis/genetics
[MESH]
|*von Willebrand Disease, Type 3/diagnosis/genetics
[MESH]
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