Nx Gen Sequencing: Alkaptonuria Test
Short Name: Alkaptonuria Genetic Test
Also known as: Homogentisic Acid Test, HGD Gene Sequencing
Nx Gen Sequencing: Alkaptonuria Test test available at DNA Labs India for ₹23,400. Uses NGS, Sanger sequencing on Whole Blood samples. Results in Report available in 40 working days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the HGD gene associated with alkaptonuria, enabling definitive diagnosis, informing treatment decisions, and facilitating genetic counseling for affected individuals and families.
- Test Code
- 1324
- Price
- ₹23,400
- Sample Type
- Whole Blood
- Result Time
- Report available in 40 working days
- Fasting Required
- No
- Method
- NGS, Sanger sequencing
Sample Collection
Ensure the patient has no recent blood transfusions. Complete the mandatory Whole Exome Sequencing Consent Form (Form 37).
Method: Venipuncture
Laboratory Analysis
A phlebotomist will collect 10 mL of whole blood using EDTA tubes under sterile conditions.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples refrigerated and ship to the lab promptly.
Timeline: Report available in 40 working days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the HGD gene associated with alkaptonuria, enabling definitive diagnosis, informing treatment decisions, and facilitating genetic counseling for affected individuals and families.
How to Prepare
- Collect 10 mL whole blood (minimum 5 mL)
- Use 2 Lavender Top (EDTA) tubes
- Ship refrigerated; do not freeze
- Submit duly filled Whole Exome Sequencing Consent Form (Form 37)
- Label samples with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is essential for confirming alkaptonuria, guiding treatment, and informing family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted samples
- Missing consent form
- Improper storage or transport
Understanding Your Results
Positive
Pathogenic variant detected, consistent with alkaptonuria. Consult a geneticist for management.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation may be needed.
VUS
Variant of unknown significance identified. Clinical follow-up and family studies are advised.
Consult a doctor if you experience symptoms like joint pain, dark urine, or skin changes, or if you have a family history of alkaptonuria. Genetic counseling is recommended for positive results.
Limitations
- ⚠May not detect all possible mutations in the HGD gene
- ⚠Variants of unknown significance (VUS) may be identified
- ⚠Does not assess for other genetic disorders
Risks & Considerations
- ●Minimal risk from blood draw: bruising, infection, or lightheadedness
- ●No direct health risks from genetic testing itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA due to improper storage
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | Nx Gen Sequencing: Alkaptonuria Test | Urine Homogentisic Acid Test | Targeted HGD Gene Sequencing | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | Nx Gen Sequencing: Alkaptonuria Test |
Frequently Asked Questions
What is alkaptonuria?
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