HPRT1 Gene Lesch-Nyham syndrome NGS Genetic Test
Short Name: HPRT1 NGS Genetic Test
Also known as: HPRT1 Gene Mutation Analysis, Lesch-Nyhan Syndrome Genetic Test, Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Test
HPRT1 Gene Lesch-Nyham syndrome 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 Reports are available in 3 to 4 weeks after the laboratory receives the sample.. 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 detect pathogenic variants in the HPRT1 gene, confirm a clinical diagnosis of Lesch-Nyhan syndrome, guide management, and identify carriers for reproductive planning.
- Test Code
- 4193
- ICD Code
- E79.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available in 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. A genetic counseling session is recommended before testing.
Method: Venipuncture, finger-prick blood spot, or submitted DNA sample
Laboratory Analysis
A blood sample is collected from a vein, or a single drop of blood is placed on an FTA card for drying.
Report Delivery
You may return to normal activities immediately.
Timeline: Reports are available in 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the HPRT1 gene, confirm a clinical diagnosis of Lesch-Nyhan syndrome, guide management, and identify carriers for reproductive planning.
How to Prepare
- Blood sample: 2-5 mL of venous blood in an EDTA tube.
- FTA card: One drop of blood on the indicated circles, allowed to air dry.
- Extracted DNA: Submit at least 1 microgram of high-quality DNA in a screw-capped tube.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling and prenatal diagnosis are essential for families with HPRT1 mutations. Confirm the clinical diagnosis with NGS before planning treatment and family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolysed sample
- Insufficient quantity
- Wrong anticoagulant (heparin can inhibit PCR)
Understanding Your Results
Positive
Pathogenic variant detected - confirms diagnosis of Lesch-Nyhan syndrome
Negative
No pathogenic variant detected - reduces likelihood of genetic diagnosis but does not exclude it
Variant of Uncertain Significance (VUS)
Additional studies may be needed to determine clinical significance
If the result is positive, consult a clinical geneticist and a neurologist for management and family screening. If negative but clinical suspicion persists, request HPRT enzyme activity testing.
Limitations
- ⚠This test detects variants in coding regions and intron-exon boundaries. Large deletions, duplications, deep intronic mutations, or variants in regulatory regions may not be identified.
- ⚠A negative result does not completely rule out Lesch-Nyhan syndrome; if clinical suspicion remains high, enzyme assay or further comprehensive testing should be considered.
Risks & Considerations
- ●Minor bruising or bleeding at the blood collection site
- ●Rare vasovagal reaction (dizziness)
Interfering Factors
- ●Contamination of sample with maternal cells (for prenatal samples)
- ●Insufficient DNA concentration
- ●Degraded DNA from inappropriate transport or storage
Frequently Asked Questions
What is the HPRT1 NGS genetic test for Lesch-Nyhan syndrome?
How much does the test cost at DNA Labs India?
What type of sample is required?
Do I need to fast before the test?
How long will the reports take?
What does a positive test result indicate?
What does a negative test result mean?
Is genetic counseling necessary before the test?
Will I receive raw data files with the report?
Can this test be done for prenatal diagnosis?
Is home sample collection available?
Who should consider this test?
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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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