Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATA6 gene for Tetralogy of Fallot

PreTest Information

Clinical History of Patient who is going for GATA6 Gene Tetralogy of Fallot NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA6 Gene Tetralogy of Fallot NGS Genetic DNA Test gene GATA6

Detail Description

Understanding GATA6 Gene and Tetralogy of Fallot NGS Genetic DNA Test

Genetic testing has come a long way in recent times and has proved to be a boon in the diagnosis and treatment of various genetic disorders. One such test is the Tetralogy of Fallot NGS Genetic DNA Test which helps in identifying mutations in the GATA6 gene that lead to the development of Tetralogy of Fallot.

What is Tetralogy of Fallot?

Tetralogy of Fallot is a congenital heart defect that is present at birth. It is a combination of four heart defects that affect the normal flow of blood through the heart. The four defects are:

• Ventricular Septal Defect (VSD)
• Pulmonary Stenosis
• Overriding Aorta
• Right Ventricular Hypertrophy

These defects lead to insufficient oxygen supply to the body, which can cause cyanosis or bluish discoloration of the skin. Tetralogy of Fallot is a rare condition and affects around 5 out of every 10,000 babies born.

What is the GATA6 Gene?

The GATA6 gene is responsible for the production of a protein that helps in the development of the heart and other organs in the body. Mutations in this gene have been linked to the development of Tetralogy of Fallot. The GATA6 gene is present on chromosome 18 and is inherited in an autosomal dominant pattern.

What is the Tetralogy of Fallot NGS Genetic DNA Test?

The Tetralogy of Fallot NGS Genetic DNA Test is a genetic test that helps in identifying mutations in the GATA6 gene that lead to the development of Tetralogy of Fallot. The test uses Next-Generation Sequencing (NGS) technology to sequence the entire coding region of the GATA6 gene and identify any mutations or variants present.

What are the Symptoms of Tetralogy of Fallot?

The symptoms of Tetralogy of Fallot vary depending on the severity of the defects present. Some common symptoms include:

• Cyanosis or bluish discoloration of the skin
• Shortness of breath
• Rapid breathing
• Fainting spells
• Poor weight gain

How is Tetralogy of Fallot Diagnosed?

Tetralogy of Fallot is usually diagnosed during infancy or childhood. The diagnosis is made based on a physical examination, medical history, and various tests such as:

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

What is the Cost of the Tetralogy of Fallot NGS Genetic DNA Test?

The cost of the Tetralogy of Fallot NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

The Tetralogy of Fallot NGS Genetic DNA Test is a valuable tool in the diagnosis and treatment of Tetralogy of Fallot. It helps in identifying mutations in the GATA6 gene that lead to the development of the condition. Early diagnosis and treatment can improve the quality of life for those affected by Tetralogy of Fallot.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GATA6 Gene Tetralogy of Fallot NGS Genetic DNA Test