Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTC1 gene for Atrial septal defect type 5

PreTest Information

Clinical History of Patient who is going for ACTC1 Gene Atrial septal defect type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTC1 Gene Atrial septal defect type 5 NGS Genetic DNA Test gene ACTC1

Detail Description

ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic DNA Test

ACTC1 gene is responsible for encoding alpha cardiac actin protein that is essential for the normal functioning of the heart. Atrial septal defect type 5 (ASD5) is a congenital heart defect caused by mutations in the ACTC1 gene. It is a rare type of ASD that affects the atrial septum, the wall that separates the two atria of the heart. The defect results in the mixing of oxygen-rich and oxygen-poor blood in the heart, leading to various symptoms and complications.

Symptoms of ASD5

The symptoms of ASD5 vary depending on the size of the defect and the age of the patient. Some common symptoms include:

• Shortness of breath
• Fatigue
• Swelling in the legs, feet or abdomen
• Heart palpitations
• Recurrent respiratory infections
• Stroke or other neurological complications (in severe cases)

Diagnosis of ASD5

ASD5 can be diagnosed through various tests and procedures such as:

• Echocardiogram
• Electrocardiogram (ECG)
• Chest X-ray
• Cardiac MRI or CT scan

NGS Genetic DNA Test for ASD5

The Next Generation Sequencing (NGS) Genetic DNA Test is a highly advanced and accurate method of detecting mutations in the ACTC1 gene that cause ASD5. The test analyzes the patient's DNA sample to identify any genetic variations that may be responsible for the development of the condition. The NGS Genetic DNA Test is a non-invasive and painless procedure that requires a small blood or saliva sample from the patient.

Cost of NGS Genetic DNA Test for ASD5

The cost of the NGS Genetic DNA Test for ASD5 in India is approximately INR 20,000. The cost may vary depending on the laboratory and the location of the patient. It is recommended to consult with a genetic counselor or a healthcare professional before undergoing the test.

Conclusion

ASD5 is a rare congenital heart defect caused by mutations in the ACTC1 gene. The symptoms and complications of the condition can be severe and may require medical intervention. The NGS Genetic DNA Test is a highly accurate and effective method of detecting the genetic variations responsible for ASD5. The cost of the test is affordable and can provide valuable insights for the management and treatment of the condition.

It is important to consult with a healthcare professional or a genetic counselor before undergoing any genetic testing procedure.