Short QT Syndrome NGS panel

Genes
(full coding
region):
CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1

List of diseases covered by the panel


Lab method: NGS panel NGS panel with CNV

TAT: 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. Testing at risk family members
3. Genetic counseling

Short QT syndrome is a genetic arrhythmogenic disorder characterized by a short and uniform QT/QTc intervals (≤ 340 ms) on the ECG. Clinical manifestations may range from asymptomatic (up to 40% of cases) to dizziness, atrial fibrillation, ventricular arrhythmias, syncope and even sudden cardiac death (SCD). Recent studies suggest that there are two high-risk peaks of SCD: in the first year of life and from 20 to 40 years of age.

Genetic alterations associated with the disease follow an autosomal dominant pattern of inheritance with high phenotype penetrance.

The current research suggests a prevalence of the disease in global population between 0.02 and 0.1% in adults while in pediatric population the prevalence is 0.05%.

References:
Brugada J et al 2014. Short QT syndrome: a predictable story. Cardiology. 2014; 128(3):231-3.
Campuzano O et al 2018. Recent Advances in Short QT Syndrome. Front Cardiovasc Med. 2018 Oct 29;5:149. doi: 10.3389/fcvm.2018.00149.eCollection 2018.
Guerrier K et al 2015. Short QT Interval Prevalence and Clinical Outcomes in a Pediatric Population. Circ Arrhythm Electrophysiol. 2015 Dec; 8(6):1460-4.