UROS Gene Porphyria Congenital Erythropoietic Genetic Test
Introduction
The UROS gene porphyria congenital erythropoietic genetic test is a type of genetic test that analyzes the UROS gene for mutations associated with porphyria congenital erythropoietic (CEP). CEP is a rare genetic disorder characterized by the deficiency of uroporphyrinogen III synthase (UROS) enzyme, which is responsible for the production of heme in the body.
Test Details
The NGS (Next-Generation Sequencing) technology used in this test allows for the simultaneous analysis of multiple genes, including the UROS gene, to identify any genetic variants or mutations that may be causing the disorder. This test can detect both known and novel mutations in the UROS gene, providing valuable information for diagnosis, prognosis, and genetic counseling.
Symptoms and Diagnosis
The UROS gene porphyria congenital erythropoietic NGS genetic test is typically performed on individuals with symptoms suggestive of CEP, such as photosensitivity, blistering of the skin, anemia, and splenomegaly. It can also be used for carrier testing in individuals with a family history of CEP.
Test Components and Price
The test includes the analysis of the UROS gene for mutations associated with CEP. The cost of the test is 4400.0 AED.
Sample Condition and Report Delivery
The test requires a blood or extracted DNA sample, or one drop of blood on an FTA card. The report delivery time is typically 3 to 4 weeks.
Test Method and Type
The UROS gene porphyria congenital erythropoietic genetic test utilizes NGS technology for analysis. It falls under the category of metabolic disorders.
Doctor and Test Department
The test can be ordered by a general physician and is conducted in the Genetics department of the lab.
Pre Test Information
Before undergoing the UROS gene porphyria congenital erythropoietic NGS genetic test, it is recommended 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 with porphyria congenital erythropoietic.
Conclusion
The UROS gene porphyria congenital erythropoietic NGS genetic test is an important tool in the diagnosis and management of porphyria congenital erythropoietic. It can help guide treatment decisions, provide information about disease progression, and assist in family planning.
| Test Name | UROS Gene Porphyria congenital erythropoietic 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for UROS Gene Porphyria congenital erythropoietic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Porphyria congenital erythropoietic |
| Test Details |
UROS gene porphyria congenital erythropoietic NGS genetic test is a type of genetic test that analyzes the UROS gene for mutations associated with porphyria congenital erythropoietic (CEP). CEP is a rare genetic disorder characterized by the deficiency of uroporphyrinogen III synthase (UROS) enzyme, which is responsible for the production of heme in the body. The NGS (Next-Generation Sequencing) technology used in this test allows for the simultaneous analysis of multiple genes, including the UROS gene, to identify any genetic variants or mutations that may be causing the disorder. This test can detect both known and novel mutations in the UROS gene, providing valuable information for diagnosis, prognosis, and genetic counseling. The UROS gene porphyria congenital erythropoietic NGS genetic test is typically performed on individuals with symptoms suggestive of CEP, such as photosensitivity, blistering of the skin, anemia, and splenomegaly. It can also be used for carrier testing in individuals with a family history of CEP. The test involves collecting a blood or saliva sample from the individual, which is then sent to a specialized laboratory for analysis. The laboratory uses advanced sequencing techniques to examine the UROS gene and identify any genetic variations or mutations. The results of the test are typically provided to the healthcare provider or genetic counselor, who can then interpret the findings and discuss the implications with the individual or their family. Overall, the UROS gene porphyria congenital erythropoietic NGS genetic test is an important tool in the diagnosis and management of porphyria congenital erythropoietic. It can help guide treatment decisions, provide information about disease progression, and assist in family planning. |
