Test Price
2,800 AED✅ Home Collection Available
HPRT1 Genetic Test for Lesch-Nyhan Syndrome | DNA Labs UAE
Executive Summary & Core Metrics
Core Metrics
- Accuracy: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily)
- Guidance: Post-test telephone clinical guidance with a genetics specialist
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731
99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing. Premium hospital-grade home collection with ISO-certified cold-chain transport and VIP mobile phlebotomy across all Emirates. Post-test telephonic clinical guidance helps interpret results with a medical specialist. Direct insurance billing verification is available through WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyses the entire HPRT1 gene to definitively diagnose Lesch-Nyhan syndrome, a severe X-linked recessive disorder causing neurological dysfunction, self-injurious behaviour, and uric acid overproduction. The test identifies all pathogenic variants with 99.9% sensitivity, providing a precise molecular diagnosis.
| Feature | Our Test (HPRT1 NGS) | Closest Alternative (HPRT Enzyme Assay) |
|---|---|---|
| Precision | 99.9% – full-gene sequencing identifies all pathogenic variants | Variable – may miss non-coding or deep intronic mutations |
| Methodology | NGS (Next Generation Sequencing), ISO 9001:2015 accredited | Enzymatic activity measurement in red blood cells |
| Speed | 3–4 Weeks | 1–2 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“This genetic test provides a precise molecular diagnosis for Lesch-Nyhan syndrome. However, clinical correlation with neurological symptoms and behavioural patterns is essential. A neurologist or clinical geneticist must interpret the results in the context of the patient’s complete history. Pattern recognition of self-injurious behaviour and hyperuricemia remains critical for management.”
Medication Advisory
Important Safety Notice
Do not discontinue or alter any prescribed medication without consulting your treating physician. Abrupt changes can lead to severe metabolic or neurological complications.
Exclusion Criteria & Red Flags
Exclusion Criteria: Individuals with acute febrile illness, those unwilling to attend a pre-test genetic counselling session, or patients unable to provide valid informed consent.
ER Red Flags: Immediate worsening of self-injurious behaviour, new-onset seizures, uncontrolled muscle spasms (dystonia), or symptoms of acute uric acid nephropathy (severe flank pain, decreased urine output) warrant emergency medical attention.
Patient FAQ & Clinical Guidance
1. What is the HPRT1 gene test and how does it diagnose Lesch-Nyhan syndrome?
This next-generation sequencing test detects mutations in the HPRT1 gene, confirming Lesch-Nyhan syndrome with 99.9% sensitivity. It identifies both coding and non-coding variants, enabling a definitive molecular diagnosis for this X-linked disorder.
2. How is the test performed and what sample is required?
A small blood sample, extracted DNA, or one drop of blood dried on an FTA card is collected via home phlebotomy. Our VIP Mobile Phlebotomy service covers all Emirates from 8 AM to 11 PM, using temperature-controlled cold-chain transport.
3. What is the turnaround time and cost of this genetic test in UAE?
Results are available within 3–4 weeks. The total cost is 2,800 AED, inclusive of pre- and post-test genetic counselling. Direct insurance billing verification is available via WhatsApp +971 54 548 8731.
4. Is pre-test genetic counselling required?
Yes, genetic counselling is mandatory before testing to ensure informed consent and to discuss the implications of results, including carrier status and family planning. Our genetics specialist provides telephonic counselling as part of the service.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance: All genetic data handling complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Accreditation: DNA Labs UAE holds DHA Facility License Number 1143 and is located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Our laboratory adheres to ISO 9001:2015 standards.
Clinical & Logistical Metadata
| Test Name | HPRT1 Gene Lesch-Nyhan Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Blood / Dried Blood Spot (FTA card) / Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | E79.1 |
| LOINC Code | 21633-5 |
| DHA Facility License & Laboratory Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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