FUCA1 Gene Fucosidosis NGS Genetic Test
Short Name: FUCA1 Fucosidosis NGS Test
Also known as: Alpha-L-fucosidase deficiency test, Fucosidosis genetic test, FUCA1 mutation analysis
FUCA1 Gene Fucosidosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of this test is to accurately detect pathogenic mutations in the FUCA1 gene to diagnose fucosidosis, confirm clinical suspicion, guide treatment decisions, and facilitate genetic counseling and family planning.
- Test Code
- 1996
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Consult with a genetic counselor to discuss test implications, obtain clinical history, and draw a pedigree chart of family members affected with fucosidosis.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample is collected via venipuncture or a drop of blood on an FTA card by a trained phlebotomist.
Report Delivery
The sample is transported to the lab under appropriate conditions for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to accurately detect pathogenic mutations in the FUCA1 gene to diagnose fucosidosis, confirm clinical suspicion, guide treatment decisions, and facilitate genetic counseling and family planning.
How to Prepare
- Provide a detailed clinical history of the patient.
- Undergo a genetic counseling session to draw a pedigree chart of family members affected with fucosidosis.
- No fasting is required unless specified by the physician.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for fucosidosis is essential for early diagnosis, management, and family planning, especially in cases with developmental delays or recurrent infections."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of fucosidosis. Genetic counseling and management planning are recommended.
No pathogenic variant detected
Fucosidosis is unlikely based on this test, but clinical correlation and other testing may be needed if symptoms persist.
Variant of uncertain significance (VUS)
Further testing and family studies are required to determine clinical relevance.
If you or your child exhibit symptoms such as developmental delay, seizures, or recurrent infections, or if there is a family history of fucosidosis, consult a genetic specialist or physician immediately.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or rearrangements
- ⚠False negatives are possible but rare with NGS technology
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Extremely low risk of infection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
Frequently Asked Questions
What is fucosidosis?
What is the cost of the FUCA1 Gene Fucosidosis NGS Genetic Test in India?
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Is the test painful?
How long does it take to get the results?
What are the symptoms of fucosidosis?
Is the test accurate?
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What if my test result is positive?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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