Short QT Syndrome Genetic Testing Test

Short QT Syndrome is a heart disease caused by a mutation in genes. It affects cardiac rhythm, due to an abnormal protein function. On an Electroencephalograph (ECG), a normal heart rhythm shows PQRST phases. In an affected person, the QS phase is abnormally short. This increases risk of cardiac arrest and atrial fibrillation. The mutation is autosomal dominant, and is inheritable. The family history of a patient therefore plays an important role. A genetic testing is done on a blood sample, to analyze the patient's gene sequences on DNA. It is checked for the 5-6 genes associated with Short QT Syndrome.

No special preparation is needed. Inform the doctor of any medications being taken by the patient. It is recommended that the patient wear a short sleeved shirt.

The patient's DNA will be analyzed to observe gene sequencing. Particularly the 5 genes that when mutated, are associated with Short QT Syndrome. The results will either be: Positive: Short QT Syndrome affected or Negative: No Short QT Syndrome

The blood sample will be drawn from a vein on the patient's arm. The site will be cleaned with an alcohol swab. A sterile needle will be inserted into the patient's arm. About 2ml blood sample will be drawn. The site will be cleaned with a cotton swab.