Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTC1 gene for Cardiomyopathy, familial hypertrophic type 11

PreTest Information

Clinical History of Patient who is going for ACTC1 Gene Cardiomyopathy, familial hypertrophic type 11 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTC1 Gene Cardiomyopathy, familial hypertrophic type 11 NGS Genetic DNA Test gene ACTC1

Detail Description

ACTC1 Gene Cardiomyopathy: Familial Hypertrophic Type 11

Familial Hypertrophic Cardiomyopathy (FHC) is a genetic disorder that affects the heart muscle. It is caused by mutations in genes that encode proteins of the cardiac sarcomere. Mutations in the ACTC1 gene, which encodes for the alpha-cardiac actin protein, have been associated with familial hypertrophic cardiomyopathy type 11 (FHC11).

Symptoms of FHC11

The symptoms of FHC11 vary widely and can range from no symptoms at all to sudden cardiac death. Some of the common symptoms include:

• Chest pain
• Shortness of breath
• Heart palpitations
• Fainting
• Fatigue

Diagnosis of FHC11

Diagnosis of FHC11 involves a combination of clinical evaluation, family history, and genetic testing. The clinical evaluation includes a physical examination, electrocardiogram (ECG), echocardiogram, and sometimes a cardiac MRI. Family history is also important, as FHC11 is an autosomal dominant disorder, meaning that a person with the mutation has a 50% chance of passing it on to their children.

Genetic testing is the most definitive way to diagnose FHC11. Next-generation sequencing (NGS) genetic DNA testing is used to identify mutations in the ACTC1 gene. This type of testing is highly accurate and can detect mutations that are not found through other diagnostic methods.

Cost of NGS Genetic DNA Test for FHC11

The cost of NGS Genetic DNA testing for FHC11 in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors.

Conclusion

FHC11 is a rare genetic disorder that affects the heart muscle. It can cause a range of symptoms, from no symptoms at all to sudden cardiac death. Diagnosis of FHC11 involves a combination of clinical evaluation, family history, and genetic testing. NGS Genetic DNA testing is the most definitive way to diagnose FHC11 and costs approximately INR 20,000 in India.

If you or someone in your family has been diagnosed with FHC11 or if you have a family history of the condition, it is important to speak with a genetic counselor or healthcare provider to discuss your options for testing and treatment.

At DNA Labs India, we offer NGS Genetic DNA testing for FHC11 and other genetic disorders. Our tests are highly accurate and reliable, and our team of genetic counselors and healthcare professionals are dedicated to providing the best possible care to our patients. Contact us today to learn more about our testing services.