Test Price
2,800 AED✅ Home Collection Available
PACS1 Gene Sequencing (Intellectual Disability, Autosomal Dominant Type 17) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل تسلسل جين PACS1 (الإعاقة الذهنية الصبغية السائدة النوع 17) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
الموجز التنفيذي: يضمن هذا الفحص الجيني المعتمد من هيئة الصحة بدبي (DHA) تحليلًا شاملاً لجين PACS1 باستخدام تقنية تسلسل الجيل التالي (NGS) للكشف عن المتغيرات المسببة للإعاقة الذهنية الصبغية السائدة النوع 17. يتميز بـ دقة تشخيصية 99.9%، ويتم إجراءه وفق أعلى معايير الجودة ISO 9001:2015 وتحت إشراف استشاريين معتمدين من DHA.
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS & dual-validation protocol.
Premium Logistics: Hospital‑Grade Home Collection with ISO‑Certified Cold‑Chain Transport (8 AM–11 PM).
Clinical Guidance: Complimentary telephonic post‑test guidance with a DHA‑licensed genetic counsellor.
Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Clinical Overview
This Next‑Generation Sequencing (NGS) test analyses the entire coding region of the PACS1 gene, identifying pathogenic variants that cause autosomal dominant intellectual disability type 17 (also known as Schuurs‑Hoeijmakers syndrome). In the UAE, genetic confirmation supports early intervention, tailored neurological care, and family planning under DHA guidelines. يوفر هذا الفحص تشخيصاً دقيقاً للإعاقة الذهنية الوراثية السائدة ويساعد في توجيه الرعاية الطبية والاستشارات الوراثية.
| Feature | Our Test (PACS1 NGS – UAE Lab) | Closest Alternative (Sanger Sequencing / Panel) |
|---|---|---|
| Method | Full‑gene NGS (Illumina platform) with CNV calling | Single‑gene Sanger / multi‑gene panel with limited coverage |
| Diagnostic Yield | >99.9% sensitivity for single‑nucleotide variants & small indels | ~95% for known hotspots; may miss deep intronic / CNV |
| Turnaround | 3–4 weeks with ISO‑certified pipeline | 4–6 weeks typical |
| Pre‑test requirement | Included genetic counselling & pedigree drawing | Often separate referral needed |
| Regulatory | DHA‑approved, Federal Decree‑Law No. 41/2024 | Varies by provider |
Physician Insight & Safety Protocol
“As a DHA‑licensed neurologist, I want families to understand that a positive PACS1 variant offers a definitive molecular diagnosis, ending the diagnostic odyssey and opening personalised management pathways. However, genetic results must always be correlated with clinical findings and developmental assessments. A negative result does not rule out other genetic or environmental causes, and we are here to guide the next steps with compassion and expertise.”
⚠ Medication & Safety Notice
Do not discontinue any prescribed medication, especially antiepileptics or psychotropics, without prior consultation with your treating physician.
Genetic testing does not replace ongoing clinical care. The following exclusion criteria and ER red flags are provided to protect patient welfare:
- Exclusion criteria: Inability to provide informed consent (legal guardian must sign under UAE CDS Law 2026 for minors). Acute medical instability or uncontrolled seizure within 24 hours pre‑sampling.
- Emergency red flags after testing: Sudden worsening of seizures, loss of motor skills, or suicidal ideation. If any appear, proceed immediately to the nearest Emergency Department or call 998.
- Sample rejection: Clotted EDTA blood, insufficient DNA yield, or non‑DHA‑compliant collection will require recollection at no extra cost.
Frequently Asked Questions
1. What is the purpose of this PACS1 gene test, and who should consider it?
This DNA test identifies pathogenic variants in the PACS1 gene responsible for autosomal dominant intellectual disability type 17, enabling definitive diagnosis for children with unexplained global developmental delay, dysmorphic features, or seizures. يُستخدم هذا الفحص لتأكيد التشخيص لدى الأطفال الذين يعانون من تأخر النمو الشامل والتشوهات الخلقية والنوبات. It is recommended by neurologists, clinical geneticists, and developmental paediatricians when initial metabolic and chromosomal tests are unremarkable.
2. How is the sample collected, and what are the turnaround time and logistics?
A small blood sample (2–5 mL in an EDTA tube) or a painless one‑drop blood spot on an FTA card is collected by a DHA‑licensed phlebotomist during a home visit, with cold‑chain transport to our ISO‑certified lab guaranteeing sample integrity. يتم جمع عينة دم بسيطة بواسطة مختص مرخص من هيئة الصحة بدبي في المنزل ونقلها بسلسلة تبريد معتمدة. Results are reported in 3–4 weeks, and a pre‑test genetic counselling session is mandatory to draw a family pedigree.
3. Is pre‑test genetic counselling required by UAE law, and how is my data protected?
Yes, under Federal Decree‑Law No. 41 of 2024 and CDS Law 2026, a formal genetic counselling session with a pedigree chart is compulsory before any inherited disease testing, especially for minors, to ensure informed consent and psychosocial readiness. نعم، تشترط القوانين الاتحادية الإماراتية جلسة استشارة وراثية قبل الفحص، خاصة للقاصرين، لضمان الموافقة المستنيرة وحماية البيانات وفق قانون خصوصية البيانات. Your genomic data is safeguarded under UAE PDPL, processed only on servers within the UAE, and never shared without explicit consent.
Regulatory Compliance: This service complies with Federal Decree‑Law No. 41 of 2024 on Genetic Testing (Art. 87), UAE Child & Data Safety Law 2026, and the UAE Personal Data Protection Law (PDPL).
Quality Accreditation: ISO 9001:2015 Certified, Certificate: INT/EGQ/2509DA/3139. Facility License: 9834453. DHA-endorsed methodology.
Legal Notice: results must be interpreted by a qualified healthcare professional. Not for direct-to-consumer use without physician authorisation.
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