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

New Test in CIC Catalog

Test Code: 3893

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. The two cardinal manifestations of LQTS are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations.
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

   Find the record of the test by clicking here