FUCA1 Gene Fucosidosis Genetic Test
Test Name: FUCA1 Gene Fucosidosis Genetic Test
Components: Alpha-L-fucosidase enzyme
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 FUCA1 Gene Fucosidosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Fucosidosis.
Test Details:
The FUCA1 gene is responsible for producing an enzyme called alpha-L-fucosidase, which plays a crucial role in breaking down certain complex sugars in the body. Mutations in the FUCA1 gene can lead to a rare genetic disorder called fucosidosis.
Fucosidosis is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. It is characterized by a deficiency in alpha-L-fucosidase activity, resulting in the buildup of complex sugars in various tissues and organs.
Next-generation sequencing (NGS) genetic testing is a powerful tool used to identify mutations in the FUCA1 gene. This technique allows for the simultaneous sequencing of multiple genes, including the FUCA1 gene, in a more efficient and cost-effective manner compared to traditional sequencing methods.
NGS genetic testing for fucosidosis can help diagnose individuals with the condition, especially in cases where the clinical presentation is unclear or atypical. It can also be used for carrier testing in individuals with a family history of fucosidosis or for prenatal testing to determine the risk of having a child with the disorder.
Overall, NGS genetic testing for the FUCA1 gene is an important tool in the diagnosis and management of fucosidosis, providing valuable information for affected individuals and their families.
Test Name | FUCA1 Gene Fucosidosis 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 FUCA1 Gene Fucosidosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Fucosidosis |
Test Details |
The FUCA1 gene is responsible for producing an enzyme called alpha-L-fucosidase, which plays a crucial role in breaking down certain complex sugars in the body. Mutations in the FUCA1 gene can lead to a rare genetic disorder called fucosidosis. Fucosidosis is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. It is characterized by a deficiency in alpha-L-fucosidase activity, resulting in the buildup of complex sugars in various tissues and organs. Next-generation sequencing (NGS) genetic testing is a powerful tool used to identify mutations in the FUCA1 gene. This technique allows for the simultaneous sequencing of multiple genes, including the FUCA1 gene, in a more efficient and cost-effective manner compared to traditional sequencing methods. NGS genetic testing for fucosidosis can help diagnose individuals with the condition, especially in cases where the clinical presentation is unclear or atypical. It can also be used for carrier testing in individuals with a family history of fucosidosis or for prenatal testing to determine the risk of having a child with the disorder. Overall, NGS genetic testing for the FUCA1 gene is an important tool in the diagnosis and management of fucosidosis, providing valuable information for affected individuals and their families. |