CTPS1 Gene Immunodeficiency Type 24 Genetic Test
At DNA Labs UAE, we offer the CTPS1 Gene Immunodeficiency Type 24 Genetic Test for individuals who suspect they may have this rare genetic disorder affecting the immune system.
Test Details
The CTPS1 gene immunodeficiency type 24 is a rare genetic disorder caused by mutations in the CTPS1 gene, responsible for producing the CTP synthase 1 enzyme. This enzyme is crucial for DNA synthesis and cell proliferation.
Individuals with CTPS1 gene immunodeficiency type 24 often have a weakened immune system, making them more susceptible to infections. They may also experience symptoms such as recurrent respiratory infections, poor growth, and developmental delay.
Method
Our CTPS1 Gene Immunodeficiency Type 24 Genetic Test utilizes NGS (next-generation sequencing) technology to analyze an individual’s DNA for mutations in the CTPS1 gene. This advanced genetic testing method allows us to identify changes or variations in the gene that may be causing the immunodeficiency.
Test Components and Price
- Test Name: CTPS1 Gene Immunodeficiency Type 24 Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Osteology Dermatology Immunology Disorders
- Doctor: Dermatologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the CTPS1 Gene Immunodeficiency Type 24 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the CTPS1 gene mutation.
Benefits of Genetic Testing
NGS genetic testing for CTPS1 gene immunodeficiency type 24 can provide valuable information for diagnosis, disease progression prediction, and treatment decisions. Understanding the specific mutation(s) present in an individual can help determine the underlying cause of the condition and guide appropriate medical interventions.
Availability
Please note that genetic testing for CTPS1 gene immunodeficiency type 24 may not be available in all regions or healthcare settings. We recommend consulting with a healthcare professional or genetic counselor for more information regarding the availability and appropriateness of this test for your specific situation.
Test Name | CTPS1 Gene Immunodeficiency type 24 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
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 is responsible for producing an enzyme called CTP synthase 1. This enzyme is involved in the production of CTP, a molecule that is essential for DNA synthesis and cell proliferation. Individuals with CTPS1 gene immunodeficiency type 24 typically have a weakened immune system, making them more susceptible to infections. They may also experience other symptoms such as recurrent respiratory infections, poor growth, and developmental delay. NGS (next-generation sequencing) genetic testing is a type of genetic test that can be used to identify mutations in the CTPS1 gene. This test involves sequencing the DNA of an individual to look for changes or variations in the gene that may be causing the immunodeficiency. NGS genetic testing can help with the diagnosis of CTPS1 gene immunodeficiency type 24, as well as provide information about the specific mutation(s) present in an individual. This information can be useful for understanding the underlying cause of the condition, predicting disease progression, and informing treatment decisions. It is important to note that genetic testing for CTPS1 gene immunodeficiency type 24 may not be available in all regions or healthcare settings. A healthcare professional or genetic counselor can provide more information about the availability and appropriateness of genetic testing for this condition. |