FUCA1 Gene Fucosidosis NGS Genetic DNA Test
Introduction to the Test
The FUCA1 Gene Fucosidosis NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the FUCA1 gene, which are responsible for fucosidosis, a rare metabolic disorder. This test employs Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive results, aiding in the diagnosis and management of this condition.
What the Test Measures
This test detects specific genetic mutations in the FUCA1 gene that lead to the deficiency of the enzyme alpha-L-fucosidase. The absence or malfunction of this enzyme results in the accumulation of fucose-containing compounds, causing various health issues associated with fucosidosis.
Who Should Consider This Test?
Individuals who exhibit symptoms such as developmental delays, neurological issues, or unexplained metabolic abnormalities should consider this test. Additionally, those with a family history of fucosidosis or related metabolic disorders are strongly encouraged to undergo testing to determine their genetic risk.
Benefits of Taking the Test
- Early diagnosis of fucosidosis can lead to timely interventions and better management strategies.
- Understanding your genetic predisposition can help in family planning and genetic counseling.
- Provides clarity on symptoms and helps in making informed health decisions.
Understanding Your Results
Results from the FUCA1 Gene Fucosidosis NGS Genetic DNA Test will indicate whether any mutations in the FUCA1 gene have been detected. A genetic counselor will assist in interpreting the results, discussing potential implications, and outlining possible next steps based on the findings.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FUCA1 Gene Fucosidosis NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Information
To book the FUCA1 Gene Fucosidosis NGS Genetic DNA Test, please contact us at DNA Labs Nigeria. Our team is ready to assist you with scheduling your test and answering any questions you may have.
Call or WhatsApp: +2348077798758
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient going for the FUCA1 Gene Fucosidosis NGS Genetic DNA Test and a genetic counseling session to draw a pedigree chart of family members affected with fucosidosis is required.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
