PEX5 Gene Peroxisome biogenesis disorder type 2B Genetic Test
Components: PEX5 Gene Peroxisome biogenesis disorder type 2B 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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for PEX5 Gene Peroxisome biogenesis disorder type 2B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX5 Gene Peroxisome biogenesis disorder type 2B.
Test Details: PEX5 gene Peroxisome biogenesis disorder type 2B NGS genetic test is a genetic test that analyzes the PEX5 gene for mutations associated with Peroxisome biogenesis disorder type 2B (PBD2B). PBD2B is a rare genetic disorder characterized by the impaired formation and function of peroxisomes, which are cell organelles involved in various metabolic processes. Mutations in the PEX5 gene, which encodes a protein involved in peroxisome biogenesis, are known to cause PBD2B. The NGS (Next-Generation Sequencing) technology used in this genetic test allows for the simultaneous analysis of multiple genes, including the PEX5 gene, to identify any potential mutations or variants. By identifying these genetic changes, the test can provide a diagnosis of PBD2B and help guide treatment and management options for affected individuals. It is important to note that genetic testing for PBD2B should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance based on the findings.
Test Name | PEX5 Gene Peroxisome biogenesis disorder type 2B Genetic Test |
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Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for PEX5 Gene Peroxisome biogenesis disorder type 2B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX5 Gene Peroxisome biogenesis disorder type 2B |
Test Details |
PEX5 gene Peroxisome biogenesis disorder type 2B NGS genetic test is a genetic test that analyzes the PEX5 gene for mutations associated with Peroxisome biogenesis disorder type 2B (PBD2B). PBD2B is a rare genetic disorder characterized by the impaired formation and function of peroxisomes, which are cell organelles involved in various metabolic processes. Mutations in the PEX5 gene, which encodes a protein involved in peroxisome biogenesis, are known to cause PBD2B. The NGS (Next-Generation Sequencing) technology used in this genetic test allows for the simultaneous analysis of multiple genes, including the PEX5 gene, to identify any potential mutations or variants. By identifying these genetic changes, the test can provide a diagnosis of PBD2B and help guide treatment and management options for affected individuals. It is important to note that genetic testing for PBD2B should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance based on the findings. |