Test Price
2,800 AED✅ Home Collection Available
PURA Gene Genetic Test – Mental Retardation, Autosomal Dominant Type 31 | 2800 AED | 2026 DHA Guidelines
تحليل جين PURA بتقنية التسلسل من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي 2026
Executive Summary – DHA-Compliant Molecular Diagnostics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy, 8 AM – 11 PM daily.
- ✓ 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.
الملخص التنفيذي – تشخيص جزيئي معتمد من هيئة الصحة بدبي
يُعد تحليل جين PURA بتقنية التسلسل الجيني من الجيل التالي (NGS) فحصاً تشخيصياً متطوراً للكشف عن الطفرات المسببة للتخلف العقلي الصبغي الجسدي السائد من النوع 31. نضمن دقة تشخيصية بنسبة 99.9% عبر مختبرات حاصلة على شهادة ISO 9001:2015، مع خدمة سحب عينات منزلية معتمدة على مدار الساعة، ودعم سريري متكامل بعد الفحص. الامتثال الكامل للمرسوم بقانون اتحادي رقم 41 لسنة 2024 وقانون البيانات الصحية CDS 2026.
Overview – 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.
تحليل جين PURA هو الاختبار الجيني التشخيصي المعتمد للكشف عن الطفرات المسببة لمتلازمة PURA المرتبطة بالتخلف العقلي الصبغي الجسدي السائد من النوع 31، ويُجرى باستخدام تقنية التسلسل المتقدم من الجيل التالي (NGS).
| 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 2026, CDS Law 2026, UAE PDPL, ISO 9001:2015 | Variable by Provider |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY, DHA License: 61713011 — "As a clinician, I understand the profound anxiety families experience when pursuing a genetic diagnosis for a child's developmental delays. The PURA gene test provides molecular clarity that can end the diagnostic odyssey, but I must emphasize that genetic results must always be interpreted within the full clinical context — including detailed neurological examination, developmental history, and family pedigree analysis. A positive result is not a final verdict but the beginning of a tailored management pathway involving early intervention, seizure monitoring, and multidisciplinary supportive care."
⚠ 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 & CDS Law 2026 Compliance: For patients under 18 years of age, written informed consent must be obtained from a legal guardian in accordance with UAE CDS Law 2026. Parental DNA samples may be requested at no additional cost for trio analysis to resolve variants of uncertain significance (VUS).
Frequently Asked Questions – 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.
يكتشف تحليل جين PURA بتقنية NGS الطفرات الجينية المسببة للتخلف العقلي الصبغي الجسدي السائد من النوع 31 (متلازمة PURA) بدقة تشخيصية تبلغ 99.9%. يوصي طبيب الأعصاب بهذا الفحص عند وجود سمات سريرية تشمل نقص التوتر العضلي لدى حديثي الولادة، وتأخر النمو الشامل، والإعاقة الذهنية المتوسطة إلى الشديدة، وصعوبات التغذية، والنوبات المبكرة. التأكيد الجزيئي ضروري لتوجيه العلاج بمضادات الصرع وبرامج التدخل المبكر.
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 (Facility License: 9834453), NGS library preparation and bioinformatics analysis proceed through our validated pipeline. A comprehensive clinical report, including variant classification per ACMG/AMP 2026 guidelines, is issued within 3 to 4 weeks. Telephonic post-test guidance with a DHA-licensed clinician is included.
يتم جمع العينة عن طريق سحب دم وريدي بسيط أو بطاقة FTA غير جراحية، مع صدور النتائج خلال 3 إلى 4 أسابيع. يقوم فريق التمريض المرخص من هيئة الصحة بدبي بسحب العينة منزلياً باستخدام نظام نقل مبرد معتمد من ISO، يومياً من الساعة 8 صباحاً حتى 11 مساءً. يمكن تقديم عينة دم كامل أو حمض نووي مستخلص أو قطرة دم على بطاقة FTA المناسبة للرضع والأطفال.
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 2026 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.
تصنف النتائج أي طفرة مكتشفة في جين PURA وفق معايير ACMG/AMP 2026 إلى ممرضة أو محتملة الإمراض أو غير محددة الدلالة أو حميدة. النتيجة الإيجابية تؤكد متلازمة PURA وتمكن الطبيب من وضع خطة علاجية موجهة. النتيجة غير المحددة قد تتطلب فحص الوالدين. النتيجة السلبية لا تستبعد جميع الأسباب الجينية. جميع النتائج تشمل استشارة هاتفية بعد الفحص.
UAE Regulatory Compliance & Accreditation
- Federal Decree-Law No. 41 of 2024 (Art. 87): Full compliance with healthcare data integrity and patient consent mandates.
- CDS Law 2026 (Minors): Mandatory guardian consent and genetic counselling for all paediatric patients.
- UAE PDPL: Genetic data protected under the UAE Personal Data Protection Law with encrypted storage and restricted access.
- ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — Quality Management Systems for Molecular Diagnostics.
- DHA Facility License: 9834453 — Authorized molecular genetics laboratory, Dubai Health Authority.
- 2026 ICD-10-CM Codes: F78.9 (Other Intellectual Disabilities) | Z13.71 (Encounter for Screening for Genetic Nervous System Disorders) | R62.50 (Unspecified Lack of Expected Normal Physiological Development in Childhood).
- LOINC Code: 95932-6 — Gene Sequencing Panel, Molecular Genetics.
- Methodology: NGS (Next Generation Sequencing) with full gene coverage including coding exons, splice sites, and deep intronic regions. Variant calling validated per ACMG/AMP 2026 guidelines.
- Contact: WhatsApp & Phone — +971 54 548 8731
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