UPB1 Gene Beta-ureidopropionase deficiency Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
UPB1 gene beta-ureidopropionase deficiency is a rare genetic disorder characterized by the inability to break down certain compounds called N-carbamyl beta-aminoisobutyric acid and N-carbamyl beta-alanine. This deficiency is caused by mutations in the UPB1 gene, which provides instructions for making the beta-ureidopropionase enzyme.
Test Components and Price
- Test Name: UPB1 Gene Beta-ureidopropionase deficiency Genetic Test
- Components: NGS Technology
- Price: AED 4400.0
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Metabolic Disorders
- Doctor: General Physician
- 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 Beta-ureidopropionase deficiency.
Test Details
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of UPB1 gene beta-ureidopropionase deficiency, NGS genetic testing can identify mutations in the UPB1 gene that are responsible for the disorder.
NGS genetic testing can help in diagnosing individuals with beta-ureidopropionase deficiency by identifying specific mutations in the UPB1 gene. It can also be used for carrier testing to determine if an individual carries a mutation in the UPB1 gene, which could be passed on to their children.
Furthermore, NGS genetic testing can provide valuable information for genetic counseling and family planning, as well as guide treatment decisions and management of individuals with beta-ureidopropionase deficiency.
It is important to note that NGS genetic testing should be performed by a qualified geneticist or genetic counselor who can interpret the results and provide appropriate guidance and support.
| 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 | Metabolic Disorders |
| Doctor | General Physician |
| 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 Beta-ureidopropionase deficiency |
| Test Details |
UPB1 gene beta-ureidopropionase deficiency is a rare genetic disorder characterized by the inability to break down certain compounds called N-carbamyl beta-aminoisobutyric acid and N-carbamyl beta-alanine. This deficiency is caused by mutations in the UPB1 gene, which provides instructions for making the beta-ureidopropionase enzyme. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of UPB1 gene beta-ureidopropionase deficiency, NGS genetic testing can identify mutations in the UPB1 gene that are responsible for the disorder. NGS genetic testing can help in diagnosing individuals with beta-ureidopropionase deficiency by identifying specific mutations in the UPB1 gene. It can also be used for carrier testing to determine if an individual carries a mutation in the UPB1 gene, which could be passed on to their children. Furthermore, NGS genetic testing can provide valuable information for genetic counseling and family planning, as well as guide treatment decisions and management of individuals with beta-ureidopropionase deficiency. It is important to note that NGS genetic testing should be performed by a qualified geneticist or genetic counselor who can interpret the results and provide appropriate guidance and support. |
