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FUCA1 Gene Fucosidosis Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The FUCA1 Gene Fucosidosis Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the FUCA1 gene, which are responsible for the rare lysosomal storage disorder known as Fucosidosis. This condition is characterized by the body’s inability to break down and eliminate fucose-containing substances due to a deficiency in the enzyme alpha-L-fucosidase, leading to a wide range of symptoms including developmental delay, growth retardation, and neurological deterioration.

Performed at DNA Labs UAE, this genetic test is a crucial tool for confirming the diagnosis of Fucosidosis, allowing for early intervention and management of the condition. The test involves analyzing the patient’s DNA sample for specific mutations in the FUCA1 gene, providing insights into the severity of the enzyme deficiency and potential implications for the patient’s health.

The cost of the FUCA1 Gene Fucosidosis Genetic Test at DNA Labs UAE is 4400 AED. This investment is essential for families seeking clarity on this genetic condition, enabling healthcare providers to tailor treatment and support strategies to improve the quality of life for individuals with Fucosidosis.

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FUCA1 Gene Fucosidosis Genetic Test

Cost: AED 4400.0

Symptoms, Diagnosis, and Test Details

The FUCA1 gene is responsible for producing the enzyme alpha-L-fucosidase, which breaks down complex carbohydrates in the body. However, mutations in the FUCA1 gene can lead to a rare genetic disorder called fucosidosis. This disorder is characterized by the accumulation of complex carbohydrates in various tissues and organs.

At DNA Labs UAE, we offer the FUCA1 Gene Fucosidosis Genetic Test using NGS (next-generation sequencing) technology. This test helps in the diagnosis of fucosidosis by identifying mutations in the FUCA1 gene. The test involves sequencing the entire coding region of the gene to identify any changes or variations that may be causing the disorder.

Test Components and Price

  • Test Name: FUCA1 Gene Fucosidosis Genetic Test
  • Components: NGS Technology
  • Price: AED 4400.0

Sample Condition and Report Delivery

The test requires a blood sample or extracted DNA. Alternatively, one drop of blood can be collected on an FTA Card. The report will be delivered within 3 to 4 weeks.

Test Type and Doctor

The FUCA1 Gene Fucosidosis Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this test.

Test Department and Pre Test Information

The test is conducted in the Genetics department. Prior to the test, it is important to provide the clinical history of the patient who is going for the FUCA1 Gene Fucosidosis NGS Genetic DNA Test. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by FUCA1 Gene Fucosidosis.

Importance and Benefits of Early Diagnosis

Early diagnosis of fucosidosis is crucial for initiating appropriate treatment and management strategies. This can significantly improve the quality of life for affected individuals. Furthermore, NGS genetic testing can also help identify carriers of the disease and facilitate genetic counseling for at-risk individuals and 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 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 FUCA1 Gene Fucosidosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FUCA1 Gene Fucosidosis
Test Details

The FUCA1 gene is responsible for producing the enzyme alpha-L-fucosidase, which is involved in breaking down complex carbohydrates in the body. Mutations in the FUCA1 gene can lead to a rare genetic disorder called fucosidosis, which is characterized by the buildup of complex carbohydrates in various tissues and organs of the body.

NGS (next-generation sequencing) genetic testing can be used to detect mutations in the FUCA1 gene and diagnose fucosidosis. This type of testing involves sequencing the entire coding region of the gene to identify any changes or variations that may be causing the disorder.

Early diagnosis of fucosidosis is important for initiating appropriate treatment and management strategies to improve the quality of life of affected individuals. NGS genetic testing can also help identify carriers of the disease and facilitate genetic counseling for at-risk individuals and families.