Long QT Syndrome NGS panel

coding region):

Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Distinguishing different forms of LQTS to direct appropriate therapies
  3. Testing of family members of the affected individuals
  4. Carrier status detection of known mutation
  5. Genetic counseling

Long QT Syndrome (LQTS) is a rare hereditary disease that is characterized by a prolonged QT-interval on the electrocardiogram (ECG) due to delayed repolarization of the heart. Affected individuals have an increased risk for ventricular tachycardia with syncope or even sudden death due to ventricular fibrillation.

The estimated prevalence of LQTS is one in 2000. The clinical symptoms of LQTS are quite variable depending on the causative mutation, age, gender, environmental factors and therapeutic interventions. The age of onset is usually younger than 40 years of age, however, the condition can occur as early as in infancy. The diagnosis and risk assessment of LQTS is based on patient’s clinical symptoms, including ECG findings, as well as family history. However, the diagnosis of LQTS can be challenging since around 2.5% of the healthy population have prolonged QT-interval while some of LQTS patients do not exhibit abnormal ECG findings. Therefore, genetic testing is a valuable component in the assessment of LQTS patients.

LQTS is caused by mutations in genes encoding for the subunits of various ion channels. To date, over 600 disease causing mutations have been recognized in at least 15 genes. It has been shown that mutations in known LQTS related genes can be detected in more than 75% of patients with clinical diagnosis. Most commonly the mutations are detected in KCNQ1 (LQT1), KCNH2 (LQT2) and SCN5A (LQT3) genes and account for about 95% of mutations in affected individuals. The disorder is inherited as an autosomal dominant trait, although a rare subtype with autosomal recessive inheritance has been reported (Jervell and Lange-Nielsen Syndrome).


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Wang et al. The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R). Heart Rhythm. 2013 Oct;10(10):1500-6.