Test Price
2,800 AED✅ Home Collection Available
PURA Gene Genetic Test – Mental Retardation, Autosomal Dominant Type 31
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
PURA Gene & Neurodevelopmental Diagnosis
The PURA Gene Genetic Test is a high-resolution molecular diagnostic assay designed to detect pathogenic variants in the PURA gene (5q31.2), which encodes Pur-alpha protein critical for neuronal development and transcriptional regulation. This test is the definitive diagnostic pathway for Mental Retardation, Autosomal Dominant Type 31 (MRD31), also known as PURA Syndrome — a rare neurodevelopmental disorder characterized by moderate-to-severe intellectual disability, neonatal hypotonia, feeding difficulties, and seizure susceptibility.
| Feature | Our Test – NGS (PURA Gene) | Closest Alternative – Sanger Sequencing |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – Full Gene Coverage | Sanger Sequencing – Targeted Exon Analysis |
| Diagnostic Sensitivity | 99.9% (Including Deep Intronic & CNV Detection) | ~95% (Limited to Coding Regions) |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Sample Type | Whole Blood / Extracted DNA / Dried Blood Spot (FTA Card) | Whole Blood Only |
| Price (UAE) | 2800 AED | 2400 – 3200 AED (Variable) |
| Regulatory Compliance | DHA Licensed, UAE PDPL, ISO 9001:2015, Federal Law No. 2 of 2019 | Variable by Provider |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403 — "As a consultant medical geneticist, I recognize the emotional weight families carry when searching for a molecular explanation for a child's developmental challenges. The PURA gene test offers a definitive answer that can end years of uncertainty. However, genetic results must always be interpreted within the full clinical context — detailed neurological examination, developmental history, and pedigree analysis are indispensable. A pathogenic finding does not define a child's potential; it opens the door to targeted early intervention, seizure management, and family-centred care."
Medication Advisory
Clinical Notice
Do not discontinue any prescribed medication, including antiepileptic drugs, neuroleptics, or developmental support therapies, without consulting your treating physician. Genetic test results inform long-term management but do not replace acute clinical judgment.
Exclusion Criteria & Emergency Red Flags
- • Exclusion Criteria: Patients who have undergone whole blood transfusion within the preceding 14 days (risk of donor DNA contamination). Extracted DNA samples must meet minimum concentration of 15 ng/µL and A260/A280 ratio of 1.8–2.0. Degraded or hemolyzed samples will be rejected and recollection requested at no additional phlebotomy charge.
- • Emergency Red Flags: If the patient experiences new-onset seizures, loss of developmental milestones, unexplained encephalopathy, or status epilepticus, proceed immediately to the nearest emergency department. Do not wait for genetic test results.
- • Pre-Test Requirement: A Genetic Counselling session is mandatory prior to sample collection. A board-certified genetic counsellor will draw a detailed pedigree chart documenting all family members affected with neurodevelopmental disorders. This is essential for accurate variant interpretation and segregation analysis.
- • Minors & Consent: For patients under 18 years of age, written informed consent must be obtained from a legal guardian in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Parental DNA samples may be requested at no additional cost for trio analysis to resolve variants of uncertain significance (VUS).
Patient FAQ & Clinical Guidance
1. What is the PURA gene test and why is my doctor recommending it?
The PURA gene NGS test detects pathogenic DNA variants causing Mental Retardation Autosomal Dominant Type 31 (PURA Syndrome) with 99.9% diagnostic sensitivity. Your consulting neurologist recommends this test when clinical features — including neonatal hypotonia, global developmental delay, moderate-to-severe intellectual disability, feeding difficulties in infancy, and early-onset seizures — suggest a monogenic neurodevelopmental disorder. PURA Syndrome is a rare but increasingly recognized condition, and molecular confirmation is essential to guide antiepileptic therapy, early intervention programs, and family planning. The test analyzes the entire coding region of the PURA gene (5q31.2) plus flanking intronic boundaries using Next Generation Sequencing technology.
2. How is the sample collected and when will I receive my results?
Sample collection is performed via a simple venipuncture (blood draw) or non-invasive dried blood spot FTA card, with results delivered within 3 to 4 weeks. Our DHA-licensed phlebotomists conduct hospital-grade home collection using ISO-certified cold-chain transport between 8 AM and 11 PM, seven days a week. You may provide a standard whole blood sample (3–5 mL in EDTA tube), pre-extracted DNA (minimum 1 µg), or a single drop of blood on an FTA card — the latter being particularly convenient for infants and paediatric patients. Once the sample reaches our laboratory (DHA Facility License: 1143), NGS library preparation and bioinformatics analysis proceed through our validated pipeline. A comprehensive clinical report, including variant classification per ACMG/AMP standards, is issued within 3 to 4 weeks. Telephonic post-test guidance with a DHA-licensed clinician is included.
3. What do my results mean and what happens after I receive them?
Your results will classify any identified PURA variant as pathogenic, likely pathogenic, uncertain significance (VUS), likely benign, or benign following ACMG/AMP standards. A pathogenic or likely pathogenic result confirms PURA Syndrome and enables your neurologist to implement targeted management including seizure prophylaxis, nutritional support, physiotherapy, and speech-language therapy. A VUS result may require parental trio testing (offered at no additional cost) to clarify clinical significance. A negative result does not exclude all genetic causes of intellectual disability; your physician may recommend broader testing such as whole exome sequencing (WES). All results include a post-telephonic consultation to explain findings in plain language and outline the recommended clinical pathway. UAE PDPL guarantees full confidentiality of your genetic data.
UAE Regulatory & Data Privacy Adherence
Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is encrypted, access-restricted, and processed solely for diagnostic purposes with explicit patient consent.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health infrastructure complies fully with UAE health data interoperability and security standards.
Federal Decree-Law No. 4 of 2016 on Medical Liability: Patient safety and informed consent protocols are strictly observed for all clinical testing procedures.
ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — Quality Management Systems for Molecular Diagnostics.
Clinical & Logistical Metadata
| Test Name | PURA Gene Genetic Test – Mental Retardation, Autosomal Dominant Type 31 |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood / Extracted DNA / Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Coverage Including Coding Exons, Splice Sites, and Deep Intronic Regions |
| ICD-10-CM Code | F78.9, Z13.71, R62.50 |
| LOINC Code | 95932-6 |
| DHA Facility License & Laboratory Address | License No: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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