Short Description

NGS genetic DNA test detecets for variant and mutation detection in ADA gene for Severe combined immunodeficiency due to ADA deficiency

PreTest Information

Clinical History of Patient who is going for ADA Gene Severe combined immunodeficiency due to ADA deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ADA Gene Severe combined immunodeficiency due to ADA deficiency NGS Genetic DNA Test gene ADA

Detail Description

ADA Gene Severe Combined Immunodeficiency Due to ADA Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Severe Combined Immunodeficiency (SCID) is a rare genetic disorder that affects the immune system's ability to fight infections. SCID is caused by mutations in genes that are responsible for producing proteins essential for the development and function of immune cells. One such gene is the ADA gene, which encodes for the adenosine deaminase enzyme. ADA deficiency is the most common form of SCID, accounting for around 15% of all SCID cases.

Symptoms of ADA Deficiency

The symptoms of ADA deficiency are similar to other forms of SCID. Infants with ADA deficiency usually appear healthy at birth but become sick within the first few months of life. They are prone to recurrent and severe infections, including pneumonia, meningitis, and sepsis. They may also develop chronic diarrhea and skin rashes. Without treatment, these infections can be life-threatening.

Diagnosis of ADA Deficiency

The diagnosis of ADA deficiency is usually made through newborn screening tests. Newborn screening tests are mandatory in many countries, including India, and involve a blood test to check for various disorders, including SCID. If the test is positive, further testing is done to confirm the diagnosis. Diagnostic tests for ADA deficiency include:

• Enzyme assay: This test measures the amount of adenosine deaminase enzyme in the blood or other tissues. Low levels of ADA activity are indicative of ADA deficiency.
• Genetic testing: This test involves analyzing the ADA gene for mutations. Genetic testing can confirm the diagnosis and identify carriers of the disease.
• Next-generation sequencing (NGS): NGS is a newer technology that can analyze multiple genes at once. NGS can be used to identify mutations in the ADA gene and other genes associated with immune system disorders.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for ADA deficiency in India is approximately INR 20000. This cost may vary depending on the testing facility and the type of test performed. Some testing facilities may offer discounts for multiple tests or for patients without insurance coverage.

Treatment of ADA Deficiency

The treatment for ADA deficiency is bone marrow or stem cell transplantation. The goal of transplantation is to replace the patient's defective immune cells with healthy cells from a donor. The success rate of transplantation is high, with up to 90% of patients surviving and achieving normal immune function. However, transplantation is not without risks, including graft-versus-host disease and other complications.

Conclusion

ADA deficiency is a rare but serious genetic disorder that affects the immune system's ability to fight infections. Newborn screening tests and diagnostic tests, including NGS genetic DNA testing, can identify the disease and its carriers. Treatment involves bone marrow or stem cell transplantation, which can restore normal immune function and improve the patient's quality of life. Early diagnosis and treatment are essential for a successful outcome.

At DNA Labs India, we offer NGS genetic DNA testing for ADA deficiency and other genetic disorders. Our testing is accurate, reliable, and affordable, with results available in a timely manner. Contact us today to learn more about our testing services.