MOLECULAR STUDY WOLFF-PARKINSON-WHITE SYNDROME (PRKAG2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3900

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Wolff-Parkinson-White syndrome (WPW) is a supernormal conduction disorder; it is characterised by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. WPW syndrome mainly affects males (70% of cases), mostly at a young age. During foetal life, numerous connections link the atria to the ventricles, but they all disappear before birth except for one: the bundle of His. However, in some individuals, other connections may also persist. The positions of these accessory pathways vary from one patient to another. These accessory pathways bypass the atrioventricular node, leading to ventricular preexcitation and, in some cases, to episodes of tachycardia that either stop spontaneously or require treatment. Cardiac preexcitation can be associated with a heart malformation (such as Ebstein anomaly) or with isolated hypertrophic cardiomyopathy, or it can be part of Pompe or Danon disease. Wolff-Parkinson-White syndrome can be sporadic or familial. The familial form is difficult to identify because the accessory pathways are not always permeable (active). It can be totally silent, either clinically (no tachycardia) or on the electrocardiogram (ECG). Mutations in the PRKAG2 gene have been associated with some familial forms of the Wolff-Parkinson-White syndrome. With the exception of a few cases of sudden death, life expectancy is generally not altered by the syndrome.
Links:
OMIM Entry - #194200 - WOLFF-PARKINSON-WHITE SYNDROME
Orphanet- Wolff Parkinson White syndrome
OMIM Entry - -602743 - PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2

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