Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBX1 gene for DiGeorge syndrome

PreTest Information

Clinical History of Patient who is going for TBX1 Gene DiGeorge syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBX1 Gene DiGeorge syndrome NGS Genetic DNA Test gene TBX1

Detail Description

TBX1 Gene and DiGeorge Syndrome: NGS Genetic DNA Test

DiGeorge Syndrome is a genetic condition that affects about 1 in 4,000 people. It is caused by a deletion of a small piece of chromosome 22, which includes the TBX1 gene. TBX1 is essential for the development of many organs and structures in the body, including the heart, thymus, and parathyroid glands.

Symptoms of DiGeorge Syndrome

The symptoms of DiGeorge Syndrome can vary widely depending on the severity of the condition. Some people may have very mild symptoms, while others may have more severe symptoms. Some common symptoms of DiGeorge Syndrome include:

• Heart defects
• Immune system problems
• Cleft palate
• Hearing loss
• Low calcium levels
• Delayed development

Diagnosis of DiGeorge Syndrome

DiGeorge Syndrome is typically diagnosed through a combination of physical exams, medical history, and genetic testing. A doctor may suspect DiGeorge Syndrome if a patient has certain physical characteristics or symptoms. Genetic testing can confirm the diagnosis by detecting the deletion of the TBX1 gene.

NGS Genetic DNA Test for DiGeorge Syndrome

Next-Generation Sequencing (NGS) Genetic DNA testing is a powerful tool that can detect genetic mutations associated with DiGeorge Syndrome. This test can detect the deletion of the TBX1 gene with high accuracy. NGS testing is a non-invasive method that involves taking a small sample of blood or saliva from the patient.

Cost of NGS Genetic DNA Test for DiGeorge Syndrome

The cost of NGS Genetic DNA testing for DiGeorge Syndrome in India is typically around INR 20,000. This cost may vary depending on the specific testing provider and any additional services that may be required.

Conclusion

DiGeorge Syndrome is a genetic condition that can cause a wide range of symptoms. Early diagnosis and genetic testing can help patients receive appropriate treatment and care. NGS Genetic DNA testing is a powerful tool that can detect the deletion of the TBX1 gene with high accuracy. If you suspect that you or a loved one may have DiGeorge Syndrome, talk to your doctor about genetic testing options.