Test Price
2,800 AED✅ Home Collection Available
PACS1 Gene Sequencing Test (Intellectual Disability, Autosomal Dominant Type 17) – Dubai, UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited NGS with dual‑validation bioinformatics pipeline.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–11 PM).
Clinical Guidance: Complimentary telephonic post‑test counselling with a DHA‑licensed Consultant Medical Genetics.
Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) assay analyses the complete coding region and conserved splice sites of the PACS1 gene, detecting pathogenic single‑nucleotide variants and small insertions/deletions responsible for autosomal dominant intellectual disability type 17 (Schuurs‑Hoeijmakers syndrome). In the UAE, definitive molecular confirmation enables early intervention, personalised neurological management, and informed family planning under DHA‑regulated genetic testing frameworks.
| Feature | DNA Labs UAE (PACS1 NGS) | Alternative Approach (Sanger / Panel) |
|---|---|---|
| Method | Full‑gene NGS with CNV calling (Illumina platform) | Single‑gene Sanger or multi‑gene panel with restricted coverage |
| Diagnostic Yield | >99.9% sensitivity for SNVs and small indels | ~95% for known hotspots; may miss deep intronic or CNV events |
| Turnaround Time | 21–28 business days (3–4 weeks) | 4–6 weeks typical |
| Pre‑test Requirement | Genetic counselling & pedigree drawing included | Often requires separate referral |
| Regulatory Oversight | DHA‑licensed; compliant with UAE PDPL & health data laws | Varies by provider |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Genetics, I confirm that comprehensive PACS1 gene sequencing provides families with a definitive aetiological diagnosis, ending the diagnostic odyssey. Genotype‑phenotype correlation is essential, and a negative result does not exclude other genetic or environmental aetiologies. Our multidisciplinary team supports each family through result interpretation and tailored management planning.”
Advisory Notice – Medication & Clinical Care
Do not alter or discontinue any prescribed therapy, particularly antiepileptic or psychotropic medications, without prior consultation with the treating physician. Genetic testing complements, but never replaces, ongoing clinical monitoring and developmental assessments.
Exclusion Criteria & Emergency Red Flags
- Exclusion criteria: Inability to provide informed consent (legal guardian must consent for minors under UAE Federal Decree‑Law No. 4 of 2016). Acute medical instability or uncontrolled seizure within 24 hours pre‑sampling.
- Post‑test emergency red flags: Sudden neurological deterioration, loss of acquired motor skills, or suicidal ideation. If any occur, proceed immediately to the nearest Emergency Department or call 998.
- Sample rejection: Clotted or haemolysed EDTA blood, insufficient DNA yield, or non‑DHA‑compliant collection will require recollection at no extra cost.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PACS1 gene test and who should consider it?
This DNA test identifies pathogenic variants in the PACS1 gene causing autosomal dominant intellectual disability type 17. It is indicated for children with unexplained global developmental delay, dysmorphic features, or seizures when initial metabolic and chromosomal evaluations are inconclusive. Referral from a neurologist, clinical geneticist, or developmental paediatrician is recommended.
2. How is the sample collected and what is the turnaround time?
A peripheral blood sample (2–5 mL in an EDTA tube) or a painless dried blood spot on an FTA card is collected by a DHA‑licensed phlebotomist during a scheduled home visit. Cold‑chain transport ensures sample integrity to our ISO‑certified laboratory. Results are reported within 21–28 business days, and pre‑test genetic counselling includes mandatory pedigree drawing.
3. Is genetic counselling mandatory under UAE law and how is my data protected?
Yes, formal genetic counselling with a qualified professional and a family pedigree is legally required before any inherited disease testing in the UAE, especially for minors, to ensure informed consent and psychosocial readiness. Your genomic data is safeguarded under Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), processed exclusively on servers within the UAE, and never shared without explicit written consent.
UAE Regulatory & Data Privacy Adherence
Regulatory & Data Protection Framework
This genetic testing service operates in full compliance with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of genomic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating health information systems and digital clinical data.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – establishing patient consent and safety standards for clinical procedures.
All genetic results are interpreted by DHA‑licensed specialists and are intended for use by qualified healthcare professionals only.
Clinical & Logistical Metadata
| Test Name | PACS1 Gene Sequencing (Intellectual Disability, Autosomal Dominant Type 17) |
| Price (AED) | 2,800 AED (All‑Inclusive) |
| Turnaround Time | 21–28 business days (3–4 weeks) |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV calling, Illumina platform |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 59042-0 |
| DHA Facility License & Address | License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians