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HGD Gene Alkaptonuria NGS Genetic Test

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HGD Gene Alkaptonuria NGS Genetic Test

Short Name: Alkaptonuria NGS Test

Also known as: HGD gene test, Alkaptonuria genetic screening, NGS for alkaptonuria

HGD Gene Alkaptonuria 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 from sample receipt. Free home collection in 300+ cities across India.

Genetic Test🏠 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 detect mutations in the HGD gene for the diagnosis of alkaptonuria, enabling early intervention, genetic counseling, and family planning decisions.

Test Code
1885
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications or recent blood transfusions.

Method: Phlebotomy or Saliva collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or saliva collected using a kit, depending on the sample type chosen.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless otherwise directed.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Consult with a genetic counselor or physician to discuss the test purpose and implications.
2
During the Test:Sample collection is quick and minimally invasive, typically taking 10-15 minutes.
3
After the Test:Results will be available in 3-4 weeks; follow-up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To detect mutations in the HGD gene for the diagnosis of alkaptonuria, enabling early intervention, genetic counseling, and family planning decisions.

How to Prepare

  • Fast for 4-8 hours if blood sample is required (though fasting not mandatory)
  • Ensure sample is properly labeled with patient details
  • Use provided FTA card if applicable and store at ambient temperature

Doctor's Notes

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

"This NGS genetic test is crucial for confirming alkaptonuria, enabling early management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries based on sample type
ContainerEDTA tube or FTA card
Collection MethodPhlebotomy or Saliva collection

Sample Stability

Blood: Stable at 2-8°C for up to 72 hours
Extracted DNA: Stable at -20°C for long-term storage
FTA card: Stable at room temperature for weeks
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the HGD gene associated with alkaptonuria.
Positive: Pathogenic variant detected in the HGD gene, confirming diagnosis of alkaptonuria
Negative: No pathogenic variant detected; clinical correlation recommended if symptoms persist
Variant of Uncertain Significance: Further testing or family studies may be required for clarification
⚠️ When to Consult a Doctor:

If you experience symptoms like black urine or joint pain, have a family history of alkaptonuria, or receive a positive or uncertain genetic test result.

Limitations

  • ⚠May not detect all possible mutations in the HGD gene
  • ⚠Results require interpretation by a genetic counselor or clinician
  • ⚠Does not assess for other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Privacy and confidentiality concerns with genetic data

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●DNA degradation

Compare With Similar Tests

TestHGD Gene Alkaptonuria NGS Genetic Test
ComparisonHGD Gene Alkaptonuria NGS Genetic Test

Frequently Asked Questions

What is alkaptonuria?
Alkaptonuria is a rare genetic disorder where the body cannot break down certain amino acids, leading to accumulation of homogentisic acid, causing symptoms like black urine and joint problems.
What causes alkaptonuria?
It is caused by mutations in the HGD gene, inherited in an autosomal recessive pattern, meaning both parents must carry a faulty gene.
How is the HGD Gene Alkaptonuria NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) to analyze the HGD gene from a blood or saliva sample, detecting mutations with high accuracy.
What samples are required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not typically required, but follow specific instructions provided during sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the HGD gene, confirming a diagnosis of alkaptonuria.
What does a negative result mean?
A negative result means no pathogenic mutations were detected, but clinical evaluation is still recommended if symptoms persist.
Is the test covered by insurance?
Generally, genetic testing for alkaptonuria is not covered by insurance in India; out-of-pocket payment may be required.
Can I get home sample collection?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, analysis, and report delivery.
How accurate is the NGS genetic test?
The NGS test is highly accurate for detecting mutations in the HGD gene, with sensitivity and specificity exceeding 99% for known variants.
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 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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