Test Price
2,800 AED✅ Home Collection Available
PUS3 Gene Intellectual Disability Type 55 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 accredited next‑generation sequencing (NGS) with Sanger confirmation.
- Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
- Clinical Support: Post‑test teleconsultation with a consultant medical geneticist to interpret results within the full clinical context.
- Insurance Assistance: Direct verification and billing support via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This definitive molecular diagnostic test analyzes the PUS3 gene for pathogenic variants that cause autosomal recessive intellectual disability type 55 (MRT55). Using comprehensive next‑generation sequencing (NGS) with orthogonal Sanger confirmation, the assay detects single‑nucleotide variants, small insertions/deletions, and splice‑site alterations across all coding exons and flanking intronic regions. Results are interpreted by board‑certified genetic specialists and delivered with a detailed clinical report that includes variant classification, inheritance pattern, and management recommendations.
The test is indicated for children and adults presenting with developmental delay, intellectual disability, microcephaly, seizure disorders, or a family history suggestive of autosomal recessive intellectual disability. Carrier testing for at‑risk relatives is also available.
Our Test vs. Standard Genotyping Panel
| Feature | DNA Labs UAE – PUS3 NGS Test | Standard Targeted Panel |
|---|---|---|
| Diagnostic Precision | Full gene sequencing – 99.9% sensitivity | Limited mutation hotspots – ~85% sensitivity |
| Methodology | NGS + Sanger confirmation of all pathogenic variants | PCR or chromosomal microarray (no full gene coverage) |
| Turnaround Time | 21–28 Business Days (3–4 Weeks) | 4–6 weeks |
| Price | 2,800 AED | ~3,500 AED |
| Sample Type | Whole blood (EDTA), DNA FTA card, or extracted DNA | Blood only |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I stress that a molecular diagnosis from PUS3 sequencing must always be integrated with the full clinical, developmental, and family history. This test provides a definitive answer for many families, but it is one component of a comprehensive care plan. Please continue all prescribed therapies and medications unless your treating physician explicitly advises otherwise. If you observe acute neurological deterioration, new‑onset seizures, or any behavioral emergency, seek immediate medical attention.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Pregnant individuals must discuss the risks and benefits of genetic testing with a certified genetic counselor before proceeding. Insufficient or degraded DNA samples may delay results or require re‑collection.
- Emergency Red Flags (call 998 or visit the nearest Emergency Department): Sudden‑onset seizures, loss of consciousness, severe aggression or self‑harm, any suicidal ideation, or rapid neurological decline.
Patient FAQ & Clinical Guidance
1. What does the PUS3 gene test detect?
This DNA analysis identifies pathogenic variants in the PUS3 gene that cause autosomal recessive intellectual disability type 55 (MRT55). The test is recommended for individuals with unexplained developmental delay, intellectual disability, microcephaly, or seizure disorders, and for carrier screening in families with a known history of the condition. Results include a detailed clinical interpretation with variant classifications per ACMG guidelines.
2. How long does it take to receive results?
Results are typically available within 3 to 4 weeks (21–28 business days) after sample receipt. This timeline includes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, Sanger confirmation of detected variants, and final clinical interpretation by our consultant medical geneticist. You will receive a comprehensive PDF report and a teleconsultation to discuss the findings.
3. Is this test covered by health insurance in the UAE?
Many UAE health insurance plans cover medically indicated genetic testing. Our team provides complimentary insurance verification via WhatsApp at +971 54 548 8731 and handles direct billing with most major insurers. Send your policy details for an instant coverage confirmation and cost estimate.
4. What sample types are accepted and how is collection arranged?
We accept whole blood (EDTA tube), DNA FTA cards, or previously extracted DNA samples. For blood collection, our VIP mobile phlebotomy service is available daily from 8 AM to 11 PM across Dubai and the Northern Emirates, using temperature‑controlled cold‑chain transport to ensure sample integrity. Home collection is the preferred and most convenient option for this test.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE federal law. DNA Labs UAE complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating digital health information systems and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring clinical safety, informed consent, and patient rights throughout the testing process.
All genetic data is encrypted, access‑controlled, and retained only for the duration required by law. You have the right to request access, correction, or deletion of your data at any time.
Clinical & Logistical Metadata
| Test Name | PUS3 Gene Sequencing – Autosomal Recessive Intellectual Disability Type 55 (MRT55) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Business Days (3–4 Weeks) from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA), DNA FTA Card, or Extracted DNA – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection Available (Daily 8 AM–11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) with Orthogonal Sanger Confirmation – ISO 9001:2015 Accredited |
| ICD-10-CM Code | F78.A (Genetic form of intellectual disability, autosomal recessive) |
| LOINC Code | 94754-5 (PUS3 gene mutation analysis in Blood or Tissue by NGS) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians