MOLECULAR STUDY SHORT-QT SYNDROME (KCNQ1, KCNH2, SCN5A) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3890

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia. This extremely rare syndrome affects mainly young adults or infants. The clinical spectrum is very wide ranging from asymptomatic carriers to syncope or sudden death. It is frequently associated with atrial fibrillation. Mutations in three different genes KCNQ1, KCNH2, and KCNJ2, all encoding cardiac ionic potassium channels have been identified in affected patients. Transmission is autosomal dominant. At present, an automatic implantable defibrillator is the only effective treatment for the prevention of sudden death in the short QT syndrome.
Links:
OMIM Entry - #609620 - SHORT QT SYNDROME 1; SQT1
OMIM Entry - #609621 - SHORT QT SYNDROME 2; SQT2
Orphanet- Familial short QT syndrome
OMIM Entry - -152427 - POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2
OMIM Entry - -600163 - SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
OMIM Entry - -607542 - POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

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