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AGA Gene Aspartylglucosaminuria NGS Genetic Test

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AGA Gene Aspartylglucosaminuria NGS Genetic Test

Short Name: AGU NGS Genetic Test

Also known as: Aspartylglucosaminuria, AGU

AGA Gene Aspartylglucosaminuria 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.

Next Generation Sequencing🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Aspartylglucosaminuria by identifying pathogenic mutations in the AGA gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.

Test Code
4641
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw or sample collection on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site; sample sent to lab for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and collection of clinical history.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Results delivered in 3-4 weeks; follow-up counseling recommended.

About This Test

Who Should Get This Test

To diagnose Aspartylglucosaminuria by identifying pathogenic mutations in the AGA gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes
  • Store samples at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for AGU is vital for accurate diagnosis, management, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 7 days at 2-8°C
FTA card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of mutations in the AGA gene. Positive results confirm AGU diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of Aspartylglucosaminuria; genetic counseling recommended.

📊

No pathogenic variant detected

AGU unlikely but not ruled out; consider enzyme assays or other tests if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or healthcare provider if symptoms suggestive of AGU are present, or for interpretation of test results and family planning.

Limitations

  • ⚠May not detect all types of mutations (e.g., deep intronic variants)
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Does not assess enzyme activity directly

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestAGA Gene Aspartylglucosaminuria NGS Genetic TestEnzyme Assay for AspartylglucosaminidaseUrine Oligosaccharide AnalysisSanger Sequencing
ComparisonAGA Gene Aspartylglucosaminuria NGS Genetic Test

Frequently Asked Questions

What is Aspartylglucosaminuria (AGU)?
AGU is a rare genetic disorder caused by mutations in the AGA gene, leading to enzyme deficiency and accumulation of glycoproteins, resulting in symptoms like intellectual disability and coarse facial features.
What causes AGU?
AGU is caused by mutations in the AGA gene, which encodes the enzyme aspartylglucosaminidase. It is inherited in an autosomal recessive pattern.
What are the symptoms of AGU?
Common symptoms include developmental delay, intellectual disability, seizures, behavioral problems, coarse facial features, enlarged liver and spleen, and joint stiffness.
How is AGU diagnosed?
AGU is diagnosed through genetic testing, such as NGS, to identify mutations in the AGA gene. Enzyme assays and urine tests may also be used for confirmation.
What is the AGA Gene NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the entire AGA gene to detect mutations associated with Aspartylglucosaminuria.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test in India?
The cost is approximately INR 20,000, but may vary by lab and location. DNA Labs India offers this price with home collection.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection for online bookings across India.
What should I do before the test?
Undergo genetic counseling and provide a detailed clinical history and family pedigree chart.
How accurate is the NGS test for AGU?
NGS is highly accurate for detecting mutations in the AGA gene, but results should be interpreted by a genetic counselor.
What are the treatment options for AGU?
There is no cure for AGU; management focuses on symptomatic treatment, supportive care, and genetic counseling for families.
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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✓ 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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