Short Description

NGS genetic DNA test detecets for variant and mutation detection in SNTA1 gene for Long QT syndrome type 12

PreTest Information

Clinical History of Patient who is going for SNTA1 Gene Long QT syndrome type 12 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SNTA1 Gene Long QT syndrome type 12 NGS Genetic DNA Test gene SNTA1

Detail Description

SNTA1 Gene Long QT Syndrome Type 12 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Long QT Syndrome (LQTS) is a heart condition that affects the electrical activity of the heart. It can cause irregular heartbeats, fainting, and, in some cases, sudden cardiac arrest. There are several types of LQTS, one of which is Type 12, caused by mutations in the SNTA1 gene.

What is the SNTA1 Gene?

The SNTA1 gene provides instructions for making a protein called alpha-1 syntrophin. This protein is essential for the proper functioning of ion channels in heart muscle cells that control the flow of charged particles (ions) into and out of the cells. These ion channels are critical for the normal electrical activity of the heart, and mutations in the SNTA1 gene can disrupt this activity, leading to LQTS Type 12.

Symptoms of LQTS Type 12

People with LQTS Type 12 may experience:

• Fainting or sudden loss of consciousness
• Irregular heartbeat (arrhythmia)
• Rapid heartbeat (tachycardia)
• Shortness of breath
• Chest pain or discomfort

These symptoms can occur during exercise or stress, or they may happen suddenly and without warning. In some cases, LQTS Type 12 can lead to sudden cardiac arrest, which can be fatal.

Diagnosis of LQTS Type 12

LQTS Type 12 is diagnosed through genetic testing, which looks for mutations in the SNTA1 gene. This test can be done using Next-Generation Sequencing (NGS) technology, which allows for the rapid and accurate analysis of multiple genes at once. The cost of this test is INR 20000.

If a mutation is found, other family members may also need to be tested, as LQTS Type 12 can be inherited from a parent. In some cases, additional testing such as electrocardiograms (ECGs) may be needed to evaluate heart function and monitor for any irregularities.

Conclusion

LQTS Type 12 is a rare but serious heart condition caused by mutations in the SNTA1 gene. Symptoms can include fainting, irregular heartbeat, and sudden cardiac arrest. Diagnosis is made through genetic testing using NGS technology, which costs INR 20000. If you or a family member experience any symptoms of LQTS Type 12, it is important to speak with a healthcare provider and consider genetic testing to determine the cause of the condition.