Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTPS1 gene for Immunodeficiency type 24

PreTest Information

Clinical History of Patient who is going for CTPS1 Gene Immunodeficiency type 24 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CTPS1 Gene Immunodeficiency type 24 NGS Genetic DNA Test gene CTPS1

Detail Description

CTPS1 Gene Immunodeficiency Type 24: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost INR 20,000

CTPS1 gene immunodeficiency type 24 is a rare genetic disorder that affects the immune system. It is caused by mutations in the CTPS1 gene, which provides instructions for making an enzyme that is essential for the production of DNA. This enzyme, CTP synthase 1, is responsible for converting a molecule called UTP into CTP, which is used to build DNA and RNA. When the CTPS1 gene is mutated, the enzyme cannot function properly, and the body's ability to produce new immune cells is impaired.

Symptoms of CTPS1 Gene Immunodeficiency Type 24

The symptoms of CTPS1 gene immunodeficiency type 24 can vary from person to person and can range from mild to severe. Some common symptoms include:

• Recurrent infections
• Low levels of white blood cells
• Low levels of immunoglobulins
• Failure to thrive
• Growth delays
• Autoimmune disorders

It is important to note that not all individuals with CTPS1 gene immunodeficiency type 24 will experience all of these symptoms.

Diagnosis of CTPS1 Gene Immunodeficiency Type 24

Diagnosing CTPS1 gene immunodeficiency type 24 can be challenging because it is a rare disorder, and the symptoms can be similar to other conditions. However, genetic testing can confirm the diagnosis. Next-generation sequencing (NGS) genetic DNA testing is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like CTPS1 gene immunodeficiency type 24.

NGS genetic DNA testing can identify mutations in the CTPS1 gene that cause CTPS1 gene immunodeficiency type 24. This test can be performed on a blood or saliva sample, and the results are typically available within a few weeks.

Cost of NGS Genetic DNA Test for CTPS1 Gene Immunodeficiency Type 24

The cost of NGS genetic DNA testing for CTPS1 gene immunodeficiency type 24 can vary depending on the laboratory and the location. In India, the cost of this test is typically around INR 20,000.

Conclusion

CTPS1 gene immunodeficiency type 24 is a rare genetic disorder that affects the immune system. Symptoms can vary from person to person, but genetic testing can confirm the diagnosis. NGS genetic DNA testing is a useful tool for diagnosing rare genetic disorders like CTPS1 gene immunodeficiency type 24. In India, the cost of this test is typically around INR 20,000.

If you suspect that you or a loved one may have CTPS1 gene immunodeficiency type 24, it is important to speak with a healthcare professional. They can provide guidance on genetic testing and treatment options.