PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency Genetic Test
Are you concerned about PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency? DNA Labs UAE offers a comprehensive genetic test to diagnose this rare genetic disorder. Read on to learn more about the test, including its cost, symptoms, and diagnosis process.
Test Details
PNP gene immunodeficiency, also known as purine nucleoside phosphorylase deficiency, is a rare genetic disorder that affects the immune system. It is caused by mutations in the PNP gene, which is responsible for producing an enzyme called purine nucleoside phosphorylase. This enzyme plays a crucial role in the breakdown of purine nucleosides, which are essential building blocks for DNA and RNA.
In individuals with PNP gene immunodeficiency, the lack of functional purine nucleoside phosphorylase leads to the accumulation of toxic metabolites, particularly deoxyguanosine and guanosine. The buildup of these metabolites can cause severe damage to immune cells, leading to a weakened immune system. As a result, individuals with PNP gene immunodeficiency are highly susceptible to recurrent infections, particularly bacterial, viral, and fungal infections.
Diagnosis and Test Method
NGS (Next-Generation Sequencing) genetic testing can be used to diagnose PNP gene immunodeficiency. This type of genetic testing allows for the rapid and accurate sequencing of the entire PNP gene, enabling the identification of mutations or variations that may be responsible for the disorder. By identifying specific mutations in the PNP gene, NGS genetic testing can confirm the diagnosis of PNP gene immunodeficiency and help guide appropriate treatment and management strategies.
Test Components and Price
The PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency Genetic Test offered by DNA Labs UAE costs AED 4400.0. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card.
Report Delivery
After the sample is collected, the report will be delivered within 3 to 4 weeks.
Pre Test Information
Before undergoing the PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic DNA Test gene PNP.
Doctor and Test Department
The PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency Genetic Test is performed by a dermatologist in the Genetics department.
Benefits of Genetic Testing
In addition to diagnosing PNP gene immunodeficiency, genetic testing can also be useful for carrier testing and family planning purposes. By understanding the genetic makeup of individuals and families, healthcare professionals can provide appropriate counseling and guidance for managing the disorder and making informed decisions.
It is important to note that PNP gene immunodeficiency is a rare disorder, and genetic testing should be performed by a qualified healthcare professional with expertise in genetic testing and immunodeficiency disorders. Genetic counseling should also be provided to individuals and families undergoing testing to help them understand the implications of the results and make informed decisions.
| Test Name | PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency 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 PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic DNA Test gene PNP |
| Test Details |
PNP gene immunodeficiency, also known as purine nucleoside phosphorylase deficiency, is a rare genetic disorder that affects the immune system. It is caused by mutations in the PNP gene, which is responsible for producing an enzyme called purine nucleoside phosphorylase. This enzyme plays a crucial role in the breakdown of purine nucleosides, which are essential building blocks for DNA and RNA. In individuals with PNP gene immunodeficiency, the lack of functional purine nucleoside phosphorylase leads to the accumulation of toxic metabolites, particularly deoxyguanosine and guanosine. The buildup of these metabolites can cause severe damage to immune cells, leading to a weakened immune system. As a result, individuals with PNP gene immunodeficiency are highly susceptible to recurrent infections, particularly bacterial, viral, and fungal infections. NGS (Next-Generation Sequencing) genetic testing can be used to diagnose PNP gene immunodeficiency. This type of genetic testing allows for the rapid and accurate sequencing of the entire PNP gene, enabling the identification of mutations or variations that may be responsible for the disorder. By identifying specific mutations in the PNP gene, NGS genetic testing can confirm the diagnosis of PNP gene immunodeficiency and help guide appropriate treatment and management strategies. Additionally, genetic testing can also be useful for carrier testing and family planning purposes. It is important to note that PNP gene immunodeficiency is a rare disorder, and genetic testing should be performed by a qualified healthcare professional with expertise in genetic testing and immunodeficiency disorders. Genetic counseling should also be provided to individuals and families undergoing testing to help them understand the implications of the results and make informed decisions. |
