Short Description

NGS genetic DNA test detecets for variant and mutation detection in DSP gene for Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis

PreTest Information

Clinical History of Patient who is going for DSP Gene Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis NGS Genetic DNA Test gene DSP

Detail Description

DSP Gene Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis NGS Genetic DNA Test

Dilated cardiomyopathy (DCM) is a heart condition where the heart chambers become enlarged and weakened, leading to heart failure. Woolly hair, keratoderma, and tooth agenesis are additional symptoms that can be associated with DCM caused by mutations in the DSP gene. Genetic testing through Next Generation Sequencing (NGS) can provide a diagnosis for this condition.

Symptoms

In addition to the symptoms of DCM, individuals with a DSP gene mutation may also experience:

• Woolly hair: thick, tightly curled hair that may be sparse
• Keratoderma: thickened, scaly patches of skin on the palms and soles
• Tooth agenesis: missing teeth or underdeveloped teeth

Diagnosis

A diagnosis of DCM with woolly hair, keratoderma, and tooth agenesis can be made through genetic testing using NGS. This type of testing can analyze multiple genes at once, providing a more comprehensive analysis of potential genetic causes of the condition.

In addition to NGS testing, other diagnostic tests may be performed, including:

• Echocardiogram: an ultrasound of the heart to assess its size and function
• Electrocardiogram (ECG): a test that records the electrical activity of the heart
• MRI: a test that uses magnetic fields and radio waves to create images of the heart

Cost

The cost of the DSP Gene Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the testing facility and any additional tests that may be required for diagnosis.

Conclusion

Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis is a rare genetic condition that can be diagnosed through NGS genetic testing. If you or a loved one is experiencing symptoms of DCM, including woolly hair, keratoderma, and tooth agenesis, it is important to speak with a healthcare provider about potential genetic testing options. Understanding the genetic cause of the condition can provide valuable information for treatment and management of the condition.

At DNA Labs India, we offer a wide range of genetic testing options, including NGS testing for Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis. Our team of experts is dedicated to providing accurate and timely results to help individuals and healthcare providers make informed decisions about their health. Contact us today to learn more about our genetic testing services.