OCRL Gene Lowe oculocerebrorenal syndrome 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: Hepatology Nephrology Endocrinology Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic DNA Test.
A Genetic Counselling session to draw a pedigree chart of family members affected with OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic DNA Test gene OCRL
Test Details
OCRL gene Lowe oculocerebrorenal syndrome NGS genetic test is a type of genetic test used to identify mutations or changes in the OCRL gene that are associated with Lowe oculocerebrorenal syndrome.
Lowe oculocerebrorenal syndrome, also known as Dent-2 disease, is a rare genetic disorder that primarily affects the eyes, brain, and kidneys. It is caused by mutations in the OCRL gene, which provides instructions for producing an enzyme called inositol polyphosphate 5-phosphatase.
The NGS (Next-Generation Sequencing) genetic test is a high-throughput sequencing method that allows for the rapid and cost-effective analysis of multiple genes simultaneously. In the case of Lowe oculocerebrorenal syndrome, the NGS test can analyze the entire coding region of the OCRL gene to identify any mutations or changes that may be present.
By identifying these mutations or changes in the OCRL gene, the NGS genetic test can help confirm a diagnosis of Lowe oculocerebrorenal syndrome in individuals with clinical symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of the syndrome.
The results of the OCRL gene Lowe oculocerebrorenal syndrome NGS genetic test can provide important information for genetic counseling, treatment planning, and management of the condition.
Test Name | OCRL Gene Lowe oculocerebrorenal syndrome 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 | Hepatology Nephrology Endocrinology Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic DNA Test gene OCRL |
Test Details |
OCRL gene Lowe oculocerebrorenal syndrome NGS genetic test is a type of genetic test used to identify mutations or changes in the OCRL gene that are associated with Lowe oculocerebrorenal syndrome. Lowe oculocerebrorenal syndrome, also known as Dent-2 disease, is a rare genetic disorder that primarily affects the eyes, brain, and kidneys. It is caused by mutations in the OCRL gene, which provides instructions for producing an enzyme called inositol polyphosphate 5-phosphatase. The NGS (Next-Generation Sequencing) genetic test is a high-throughput sequencing method that allows for the rapid and cost-effective analysis of multiple genes simultaneously. In the case of Lowe oculocerebrorenal syndrome, the NGS test can analyze the entire coding region of the OCRL gene to identify any mutations or changes that may be present. By identifying these mutations or changes in the OCRL gene, the NGS genetic test can help confirm a diagnosis of Lowe oculocerebrorenal syndrome in individuals with clinical symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of the syndrome. The results of the OCRL gene Lowe oculocerebrorenal syndrome NGS genetic test can provide important information for genetic counseling, treatment planning, and management of the condition. |