GRHPR Gene Hyperoxaluria type 2 Genetic Test
Test Name: GRHPR Gene Hyperoxaluria type 2 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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 GRHPR Gene Hyperoxaluria type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperoxaluria type 2.
Test Details
The GRHPR gene is responsible for producing an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR), which plays a crucial role in the metabolism of glyoxylate, a substance produced during the breakdown of certain amino acids. Mutations in the GRHPR gene can lead to a condition called hyperoxaluria type 2.
Hyperoxaluria type 2 is a rare genetic disorder characterized by the accumulation of oxalate, a byproduct of glyoxylate metabolism, in the body. This excess oxalate can form crystals and stones in the kidneys and other organs, leading to kidney damage and other complications.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variants that may be associated with a particular condition. In the case of GRHPR gene hyperoxaluria type 2, NGS genetic testing can be used to identify mutations or variants in the GRHPR gene that may be responsible for the condition.
NGS genetic testing involves sequencing the DNA of an individual, usually obtained through a blood or saliva sample. The DNA sequence is then compared to a reference sequence to identify any differences or mutations in the GRHPR gene. This information can help in confirming a diagnosis of hyperoxaluria type 2 and may also be useful in genetic counseling and family planning.
It is important to note that NGS genetic testing may not be available at all healthcare facilities and may require a referral to a specialized genetic testing laboratory. Additionally, the interpretation of the test results should be done by a qualified healthcare professional or genetic counselor who can provide appropriate guidance and support.
| Test Name | GRHPR Gene Hyperoxaluria type 2 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 GRHPR Gene Hyperoxaluria type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperoxaluria type 2 |
| Test Details |
The GRHPR gene is responsible for producing an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR), which plays a crucial role in the metabolism of glyoxylate, a substance produced during the breakdown of certain amino acids. Mutations in the GRHPR gene can lead to a condition called hyperoxaluria type 2. Hyperoxaluria type 2 is a rare genetic disorder characterized by the accumulation of oxalate, a byproduct of glyoxylate metabolism, in the body. This excess oxalate can form crystals and stones in the kidneys and other organs, leading to kidney damage and other complications. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variants that may be associated with a particular condition. In the case of GRHPR gene hyperoxaluria type 2, NGS genetic testing can be used to identify mutations or variants in the GRHPR gene that may be responsible for the condition. NGS genetic testing involves sequencing the DNA of an individual, usually obtained through a blood or saliva sample. The DNA sequence is then compared to a reference sequence to identify any differences or mutations in the GRHPR gene. This information can help in confirming a diagnosis of hyperoxaluria type 2 and may also be useful in genetic counseling and family planning. It is important to note that NGS genetic testing may not be available at all healthcare facilities and may require a referral to a specialized genetic testing laboratory. Additionally, the interpretation of the test results should be done by a qualified healthcare professional or genetic counselor who can provide appropriate guidance and support. |
