GUSB Gene Mucopolysaccharidosis type 7 Genetic Test
At DNA Labs UAE, we offer the GUSB Gene Mucopolysaccharidosis type 7 Genetic Test at a cost of AED 4400.0. This test is used to diagnose Mucopolysaccharidosis type 7 (MPS7), also known as Sly syndrome, which is a rare genetic disorder caused by mutations in the GUSB gene.
Test Components
The GUSB Gene Mucopolysaccharidosis type 7 Genetic Test includes:
- 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
Prior to undergoing the GUSB Gene Mucopolysaccharidosis type 7 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with Mucopolysaccharidosis type 7.
Test Details
The GUSB gene is responsible for producing an enzyme called beta-glucuronidase. Mutations in this gene can lead to the development of MPS7, a disorder characterized by the deficiency of the beta-glucuronidase enzyme. This enzyme is involved in the breakdown of glycosaminoglycans (GAGs), which are complex carbohydrates found in the body.
Without the proper functioning of beta-glucuronidase, GAGs accumulate in various tissues and organs, resulting in a wide range of symptoms. The GUSB Gene Mucopolysaccharidosis type 7 Genetic Test utilizes Next-generation sequencing (NGS) technology to identify mutations in the GUSB gene. This allows for the simultaneous analysis of multiple genes, including GUSB, to detect any changes or mutations that may be present.
NGS genetic testing for MPS7 can help confirm a clinical diagnosis and provide information about the specific genetic changes causing the disorder. It is also useful for carrier testing, prenatal testing, and genetic counseling for individuals and families at risk for MPS7.
It is important to note that genetic testing should always be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
Test Name | GUSB Gene Mucopolysaccharidosis type 7 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 GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mucopolysaccharidosis type 7 |
Test Details |
The GUSB gene is responsible for producing an enzyme called beta-glucuronidase. Mutations in this gene can lead to a rare genetic disorder called Mucopolysaccharidosis type 7 (MPS7), also known as Sly syndrome. MPS7 is an autosomal recessive disorder characterized by the deficiency of the beta-glucuronidase enzyme. This enzyme is involved in the breakdown of glycosaminoglycans (GAGs), which are complex carbohydrates found in the body. Without the proper functioning of beta-glucuronidase, GAGs accumulate in various tissues and organs, leading to a wide range of symptoms. Next-generation sequencing (NGS) genetic testing is a diagnostic method that can be used to identify mutations in the GUSB gene. This technique allows for the simultaneous analysis of multiple genes, including GUSB, to detect any changes or mutations that may be present. NGS genetic testing for MPS7 can help confirm a clinical diagnosis and provide information about the specific genetic changes causing the disorder. It can also help with carrier testing, prenatal testing, and genetic counseling for individuals and families at risk for MPS7. It is important to note that genetic testing should always be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |