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HPD Gene Hawkinsinuria NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HPD Gene Hawkinsinuria NGS Genetic Test

Short Name: HPD Gene Hawkinsinuria Test

Also known as: HPD Gene Mutation, Hawkinsinuria Disorder

HPD Gene Hawkinsinuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports delivered in 3 to 4 weeks via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 identify mutations in the HPD gene associated with Hawkinsinuria for diagnosis, carrier screening, and genetic counseling.

Test Code
2064
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a pedigree chart.

Method: Venipuncture for blood, or FTA card application

Step 2

Laboratory Analysis

Blood sample collected by a trained phlebotomist or use of FTA card for one drop blood.

Step 3

Report Delivery

Sample transported to laboratory for DNA extraction and NGS sequencing.

Timeline: Reports delivered in 3 to 4 weeks via online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:Consult a geneticist for pre-test counseling and assessment of family history.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Results reviewed with healthcare provider; genetic counseling recommended for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the HPD gene associated with Hawkinsinuria for diagnosis, carrier screening, and genetic counseling.

How to Prepare

  • No fasting required
  • Ensure proper labeling of sample
  • Follow standard blood collection protocols

Doctor's Notes

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

"Early diagnosis of Hawkinsinuria through genetic testing is crucial for managing symptoms and improving patient outcomes. Refer patients with suspected metabolic disorders for timely testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood, or FTA card application

Sample Stability

Blood samples stable at room temperature for up to 24 hours
FTA cards stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the HPD gene.
Normal result: No pathogenic variants detected, low risk for Hawkinsinuria
Abnormal result: Pathogenic variant(s) identified, confirm with clinical correlation and family testing
Variant of uncertain significance: Further testing or counseling may be recommended
⚠️ When to Consult a Doctor:

If symptoms of Hawkinsinuria are present, if test results are positive, or for family planning decisions.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Cannot predict disease severity or onset

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Potential for psychological impact based on results
  • ●Genetic discrimination concerns

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestHPD Gene Hawkinsinuria NGS Genetic TestTyrosine Metabolism PanelWhole Exome Sequencing
ComparisonHPD Gene Hawkinsinuria NGS Genetic TestTests multiple genes involved in tyrosine metabolism, not specific to HPDBroader genetic analysis, may identify other disorders

Frequently Asked Questions

What is Hawkinsinuria?
Hawkinsinuria is a rare genetic disorder affecting tyrosine metabolism, caused by mutations in the HPD gene.
What causes Hawkinsinuria?
It is caused by mutations in the HPD gene, which leads to deficient enzyme activity and accumulation of tyrosine byproducts.
What are the symptoms of Hawkinsinuria?
Symptoms include developmental delays, intellectual disability, seizures, and liver and kidney problems.
How is Hawkinsinuria diagnosed?
Diagnosis involves clinical evaluation, biochemical tests, and genetic testing such as NGS to confirm HPD gene mutations.
What is the HPD Gene Hawkinsinuria NGS Genetic Test?
It is a next-generation sequencing test that analyzes the entire HPD gene to identify mutations associated with Hawkinsinuria.
How much does the HPD Gene Hawkinsinuria NGS Genetic Test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
Who should consider this test?
Individuals with symptoms of Hawkinsinuria, a family history of the disorder, or those seeking carrier testing.
What is the next step after a positive test result?
Consult a healthcare provider or geneticist for confirmation, management options, and genetic counseling.
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.

LIMS Integration

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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