UPB1 Gene Beta-ureidopropionase deficiency Genetic Test
Components: UPB1 Gene Beta-ureidopropionase deficiency Genetic Test
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: Dysmorphology
Doctor: Pediatrics
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test gene UPB1
Test Details
UPB1 gene beta-ureidopropionase deficiency is a rare genetic disorder that affects the metabolism of certain compounds in the body. It is caused by mutations in the UPB1 gene, which provides instructions for producing the enzyme beta-ureidopropionase. Beta-ureidopropionase is involved in the breakdown of uracil and thymine, which are building blocks of DNA and RNA.
In individuals with UPB1 gene beta-ureidopropionase deficiency, the enzyme is either absent or not functioning properly, leading to the accumulation of certain compounds in the body. Symptoms of UPB1 gene beta-ureidopropionase deficiency can vary widely, but may include developmental delay, intellectual disability, seizures, autistic features, and abnormal movements. Some affected individuals may also have an increased risk of certain types of cancer.
NGS (Next Generation Sequencing) genetic testing can be used to diagnose UPB1 gene beta-ureidopropionase deficiency. This type of testing allows for the simultaneous analysis of multiple genes, including the UPB1 gene, to identify any mutations or genetic variants that may be present.
Genetic testing for UPB1 gene beta-ureidopropionase deficiency can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations. It may also be used for carrier testing in individuals with a family history of the disorder. It is important to consult with a healthcare professional or genetic counselor to determine if genetic testing is appropriate and to understand the potential implications of the results.
| Test Name | UPB1 Gene Beta-ureidopropionase 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 | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test gene UPB1 |
| Test Details |
UPB1 gene beta-ureidopropionase deficiency is a rare genetic disorder that affects the metabolism of certain compounds in the body. It is caused by mutations in the UPB1 gene, which provides instructions for producing the enzyme beta-ureidopropionase. Beta-ureidopropionase is involved in the breakdown of uracil and thymine, which are building blocks of DNA and RNA. In individuals with UPB1 gene beta-ureidopropionase deficiency, the enzyme is either absent or not functioning properly, leading to the accumulation of certain compounds in the body. Symptoms of UPB1 gene beta-ureidopropionase deficiency can vary widely, but may include developmental delay, intellectual disability, seizures, autistic features, and abnormal movements. Some affected individuals may also have an increased risk of certain types of cancer. NGS (Next Generation Sequencing) genetic testing can be used to diagnose UPB1 gene beta-ureidopropionase deficiency. This type of testing allows for the simultaneous analysis of multiple genes, including the UPB1 gene, to identify any mutations or genetic variants that may be present. Genetic testing for UPB1 gene beta-ureidopropionase deficiency can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations. It may also be used for carrier testing in individuals with a family history of the disorder. It is important to consult with a healthcare professional or genetic counselor to determine if genetic testing is appropriate and to understand the potential implications of the results. |
