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FUCA1 Gene Fucosidosis NGS Genetic Test

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FUCA1 Gene Fucosidosis NGS Genetic Test

Short Name: Fucosidosis NGS Test

Also known as: Fucosidosis Genetic Test, FUCA1 Mutation Analysis, Alpha-L-fucosidase Deficiency Test

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.

Neurologist🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm or rule out a diagnosis of fucosidosis by identifying mutations in the FUCA1 gene using NGS technology. It helps in clinical decision-making, family planning, and initiating appropriate treatment or supportive care.

Test Code
1626
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)
Step 1

Sample Collection

Ensure genetic counseling session is completed to draw a pedigree chart. Provide clinical history of the patient.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is drawn via venipuncture or a drop blood on FTA card is collected by a trained phlebotomist.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient room temperature conditions. No special post-collection care is needed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Complete genetic counseling and provide clinical history. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample analyzed in lab; results available in 3-4 weeks. Genetic counseling recommended post-test.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out a diagnosis of fucosidosis by identifying mutations in the FUCA1 gene using NGS technology. It helps in clinical decision-making, family planning, and initiating appropriate treatment or supportive care.

How to Prepare

  • Fasting is not required.
  • Collect sample in an EDTA tube or FTA card as specified.
  • Label the sample correctly with patient details.
  • Store and transport at room temperature.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing with NGS is crucial for diagnosing Fucosidosis, especially in patients with neurological symptoms, to guide management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Ambient room temperatureStable for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FUCA1 gene. A positive result confirms fucosidosis, while a negative result suggests no mutations detected, but clinical symptoms may require further evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of fucosidosis. Genetic counseling and management plan recommended.

📊

Negative for pathogenic variant

No mutations detected in FUCA1 gene. Fucosidosis unlikely, but consider other diagnoses if symptoms persist.

📊

Variant of uncertain significance (VUS)

Genetic variant found but not clearly linked to fucosidosis. Further analysis or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if test results are positive, inconclusive, or if symptoms of fucosidosis are present. Early intervention can improve outcomes.

Limitations

  • ⚠May not detect all possible mutations, including deep intronic variants
  • ⚠Genetic variants of uncertain significance (VUS) may be identified
  • ⚠Results require clinical correlation for accurate interpretation

Risks & Considerations

  • ●Minimal risks similar to any blood draw, such as bruising or discomfort
  • ●Rare risk of infection at puncture site

Interfering Factors

  • ●Degraded or contaminated DNA sample
  • ●Incorrect sample collection or storage
  • ●Recent blood transfusion may affect results

Frequently Asked Questions

What is Fucosidosis?
Fucosidosis is a rare genetic disorder caused by mutations in the FUCA1 gene, leading to deficiency of the enzyme Alpha-L-fucosidase and accumulation of fucose-containing substances in the body.
What is the FUCA1 gene?
The FUCA1 gene provides instructions for making the enzyme Alpha-L-fucosidase, which is essential for breaking down certain sugars. Mutations in this gene cause fucosidosis.
Who should consider this genetic test?
Individuals with symptoms such as developmental delay, skeletal abnormalities, hepatosplenomegaly, coarse facial features, recurrent infections, or seizures, especially if there is a family history of fucosidosis.
How is the test performed?
The test involves collecting a blood sample or DNA, which is then analyzed using Next-Generation Sequencing (NGS) to detect mutations in the FUCA1 gene.
What does a positive test result mean?
A positive result confirms a diagnosis of fucosidosis, indicating the presence of pathogenic mutations in the FUCA1 gene. Genetic counseling and management strategies should be discussed.
Is the test painful or risky?
The test involves a standard blood draw, which may cause minor discomfort or bruising. There are no significant risks beyond those of any routine blood collection.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The cost of the FUCA1 Gene Fucosidosis NGS Genetic Test is INR 20,000 at DNA Labs India, which includes home sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children, especially if symptoms are present.
What are the limitations of the test?
The test may not detect all mutations, and variants of uncertain significance might be found. It should be interpreted alongside clinical findings.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting known mutations in the FUCA1 gene, but accuracy depends on sample quality and analysis methods. It is considered the gold standard for genetic diagnosis of fucosidosis.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

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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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