Short Description

NGS genetic DNA test detecets for variant and mutation detection in CACNA1D gene for Sinoatrial node dysfunction and deafness

PreTest Information

Clinical History of Patient who is going for PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN41

Detail Description

CACNA1D Gene Sinoatrial Node Dysfunction and Deafness NGS Genetic DNA Test

DNA Labs India offers advanced genetic testing services to help diagnose and treat a wide range of genetic disorders. One such test is the CACNA1D Gene Sinoatrial Node Dysfunction and Deafness NGS Genetic DNA Test, which helps identify genetic mutations that can cause sinoatrial node dysfunction and deafness.

What is CACNA1D Gene Sinoatrial Node Dysfunction?

CACNA1D is a gene that provides instructions for making a protein called the L-type calcium channel. This channel plays a critical role in the normal functioning of the sinoatrial node, which is a group of specialized cells in the heart that control the heart's rhythm.

When there is a mutation in the CACNA1D gene, it can cause the L-type calcium channel to malfunction, leading to sinoatrial node dysfunction. This can result in an irregular heartbeat, also known as arrhythmia, which can cause dizziness, fainting, and even sudden death.

What is CACNA1D Gene Deafness?

In addition to sinoatrial node dysfunction, mutations in the CACNA1D gene can also cause deafness. This is because the L-type calcium channel is also important for the normal functioning of the inner ear.

When there is a mutation in the CACNA1D gene, it can disrupt the development of the inner ear, leading to hearing loss. This type of hearing loss is usually sensorineural, meaning that it is caused by damage to the nerves or hair cells in the inner ear.

Symptoms of CACNA1D Gene Sinoatrial Node Dysfunction and Deafness

The symptoms of CACNA1D gene sinoatrial node dysfunction can vary from person to person and can range from mild to severe. Some of the common symptoms include:

• Irregular heartbeat
• Dizziness
• Fainting
• Sudden death

The symptoms of CACNA1D gene deafness can also vary from person to person and can range from mild to severe. Some of the common symptoms include:

• Hearing loss
• Tinnitus (ringing in the ears)
• Difficulty hearing in noisy environments

Diagnosing CACNA1D Gene Sinoatrial Node Dysfunction and Deafness

The CACNA1D Gene Sinoatrial Node Dysfunction and Deafness NGS Genetic DNA Test is a highly specialized genetic test that can identify mutations in the CACNA1D gene. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the gene and identify any mutations that may be present.

The test is typically recommended for individuals who have symptoms of sinoatrial node dysfunction and/or deafness and have a family history of these conditions. It can also be used for prenatal testing to identify mutations in the CACNA1D gene in a developing fetus.

CACNA1D Gene Sinoatrial Node Dysfunction and Deafness NGS Genetic DNA Test Cost

The cost of the CACNA1D Gene Sinoatrial Node Dysfunction and Deafness NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of the test kit, sample collection, DNA sequencing, and genetic counseling.

Conclusion

The CACNA1D Gene Sinoatrial Node Dysfunction and Deafness NGS Genetic DNA Test is a powerful tool for diagnosing and treating genetic mutations that can cause sinoatrial node dysfunction and deafness. If you or someone you know is experiencing symptoms of these conditions, it is important to speak with a healthcare professional and consider genetic testing to help identify the underlying cause.