Test Price
2,800 AED✅ Home Collection Available
TTI2 Gene Sequencing (MRT39) – Intellectual Disability Type 39 Diagnostic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS full gene sequencing with CNV analysis.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM – 11 PM.
- Clinical Guidance: Telephonic post-test genetic counselling and result interpretation from a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED – comprehensive full gene sequencing with no hidden fees.
Test Overview & Methodology
This advanced diagnostic test utilizes Next-Generation Sequencing (NGS) to analyze the complete coding region and intron-exon boundaries of the TTI2 gene. It detects pathogenic variants responsible for autosomal recessive intellectual disability type 39 (MRT39), including single nucleotide variants, small insertions/deletions, and copy number variations (CNVs).
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Sanger / Targeted Panel) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for coding, CNV, and deep intronic regions | ~95% — misses large deletions and deep intronic variants |
| Methodology | Next-Generation Sequencing (NGS) with CNV analysis | Sanger sequencing of exons only; limited resolution for mosaicism |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
| Cost | 2,800 AED (insurance approved with direct billing) | 5,000+ AED – often out-of-pocket |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I recognise that receiving a genetic diagnosis for a child’s developmental delay can be emotionally challenging. This NGS-based test provides a definitive molecular diagnosis for MRT39, enabling targeted early intervention, accurate recurrence risk counselling, and informed family planning. It is vital that all results are interpreted in the full clinical context by a specialist. A negative result does not rule out other genetic aetiologies and should not delay necessary supportive care.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Clinical Advisory
Do not discontinue or alter any prescribed medication without consulting the ordering physician. Genetic test results must always be correlated with clinical findings and should be discussed with a qualified healthcare provider before any management changes.
Safety Advisory & Exclusion Criteria
- Exclusion: Active febrile illness or coagulopathy — postpone blood draw until clinically resolved.
- Exclusion: Minors under 18 years require written parental consent and a court order as mandated by UAE Federal Law.
- Emergency Red Flag: New-onset seizures, loss of consciousness, or acute regression of developmental milestones — proceed to the nearest Emergency Room or call 998.
- Emergency Red Flag: Severe allergic reaction to phlebotomy materials (extremely rare) — call 998 immediately.
Patient FAQ & Clinical Guidance
1. What is the TTI2 gene and how does it relate to intellectual disability type 39 (MRT39)?
The TTI2 gene encodes a protein essential for neuronal migration, axon guidance, and synapse formation. Biallelic pathogenic variants in TTI2 disrupt these critical neurodevelopmental processes, leading to autosomal recessive intellectual disability type 39 — a condition characterised by moderate to severe intellectual impairment, microcephaly, delayed motor milestones, and in some cases, seizure disorders.
2. How is the NGS full gene sequencing test performed and what sample is required?
The test requires a standard peripheral whole blood sample (3–5 mL in an EDTA tube) collected via routine venipuncture. For infants or young children, a buccal swab or saliva sample may be accepted after clinical verification. DNA is extracted from the sample and analysed using Next-Generation Sequencing to read the entire coding region and conserved splice sites of the TTI2 gene, with concurrent bioinformatic analysis for CNV detection.
3. Can this genetic test be performed on children and what are the UAE regulatory requirements?
Yes, the test can be performed on paediatric patients. Under UAE Federal Law No. 2 of 2019 and the Federal Decree-Law No. 4 of 2016 on Medical Liability, genetic testing of minors requires explicit written parental or guardian consent and a court order. The process is designed to ensure ethical compliance, patient protection, and informed decision-making for families.
4. What is the turnaround time and how will I receive my results?
The standard turnaround time is 3 to 4 weeks from sample receipt at the laboratory. Results are issued as a comprehensive molecular report with variant classification according to ACMG/AMP guidelines, including clinical interpretation and recommendations for follow-up. Reports are delivered electronically via secure patient portal and discussed during a telephonic genetic counselling session with our Consultant Medical Geneticist.
For insurance verification or to schedule VIP home collection, contact WhatsApp: +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All patient data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring robust encryption, access controls, and lawful processing of genetic information.
- Health Information Governance: Laboratory information systems adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing secure transmission and storage of electronic health records.
- Clinical Safety & Patient Consent: Specimen collection, handling, and reporting follow the standards of Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety, informed consent protocols, and professional accountability.
- Accreditation: The laboratory operates under ISO 9001:2015 certified processes with rigorous internal quality control and external proficiency testing programmes.
Clinical & Logistical Metadata
| Test Name | TTI2 Gene Sequencing (MRT39) – Full Gene NGS with CNV Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) or buccal swab / saliva (paediatric cases) |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV bioinformatic analysis |
| ICD-10-CM Code | F78 |
| LOINC Code | 94218-1 |
| DHA Facility License & Address | DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. DNA Labs UAE. |
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