Test Price
2,800 AED✅ Home Collection Available
FTO Gene NGS Test for Growth Retardation, Developmental Delay, and Facial Dysmorphism in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical Indication & Diagnostic Approach
This targeted genetic test sequences the entire coding region of the FTO gene using Next-Generation Sequencing (NGS) to detect single nucleotide variants and small insertions/deletions causative of a rare autosomal recessive syndrome characterised by prenatal growth restriction, postnatal developmental delay, intellectual disability, and distinctive craniofacial dysmorphism.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity through ISO 9001:2015 accredited, cold-chain processed NGS workflow.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary post-test telephonic clinical interpretation session with a Consultant Medical Genetics specialist.
- Insurance & Billing: Direct insurance billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FTO gene provides instructions for an enzyme that regulates growth and brain development. Biallelic mutations in FTO cause a syndrome of intrauterine growth retardation, severe developmental delay, intellectual disability, and distinctive facial features such as a broad forehead and deep-set eyes. These clinical signs often overlap with other dysmorphology syndromes, making molecular confirmation essential for accurate diagnosis and family counselling.
Our targeted NGS assay delivers complete coding-exon coverage with deep read depth, achieving 99.9% analytical sensitivity for point mutations and small insertions/deletions, while avoiding the incidental findings and longer turnaround of whole exome sequencing and the limited scope of single-gene Sanger sequencing. The focused design also allows detection of intronic variants near splice sites that are often missed by broader panels.
| Feature | Our Test (FTO NGS – 2800 AED) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Methodology | Targeted Next-Generation Sequencing (exon-level coverage) | Whole Exome Sequencing (broad but less depth for FTO) |
| Turnaround Time | 3 – 4 Weeks | 8 – 12 Weeks |
| Diagnostic Sensitivity | 99.9% for coding variants (including novel deep intronic splice sites) | ~95% for exonic variants; may miss FTO-specific intronic variants |
| Pre-test Genetic Counselling | Mandatory session included (pedigree drawing & informed consent) | Often separate referral required |
Physician Insight & Safety Protocols
"Diagnostic precision in rare genetic syndromes is the cornerstone of targeted clinical management. The FTO NGS test provides a definitive molecular answer, but it must always be contextualized within a comprehensive dysmorphology and developmental assessment. Families should never adjust therapeutic regimens based on genetic results alone without direct consultation with their supervising specialist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory & Safety Considerations
⚠️ Critical Advisory: Do not discontinue prescribed medication without consulting your doctor.
Genetic test results are one component of a holistic clinical picture. It is essential to maintain all prescribed therapies until a full clinical correlation has been performed by your supervising specialist.
Exclusion Criteria (must be disclosed before sample collection):
- Current febrile illness or acute infection
- Blood transfusion within the last two weeks
- Known severe bleeding disorder (e.g., haemophilia) unless cleared by haematologist
- Recent bone marrow transplant (chimerism may invalidate germline results)
Emergency Red Flags – seek immediate medical attention if the child develops:
- Sudden loss of previously acquired developmental milestones
- Intractable seizures or new-onset status epilepticus
- Severe failure to thrive with signs of dehydration
Patient FAQ & Clinical Guidance
1. What is the FTO gene and how does it relate to growth retardation and facial dysmorphism?
The FTO gene provides instructions for an enzyme that regulates growth and brain development. Biallelic mutations cause a syndrome of intrauterine growth retardation, severe developmental delay, intellectual disability, and distinctive facial features such as a broad forehead and deep-set eyes. These clinical signs often overlap with other dysmorphology syndromes, making molecular confirmation essential for accurate diagnosis and family counselling.
2. Why choose targeted NGS over whole exome or Sanger sequencing for FTO analysis?
Targeted NGS for the FTO gene delivers complete coding-exon coverage with deep read depth, achieving 99.9% analytical sensitivity for point mutations and small insertions/deletions, while avoiding the incidental findings and longer turnaround of whole exome sequencing and the limited scope of single-gene Sanger sequencing. The focused design also allows detection of intronic variants near splice sites that are often missed by broader panels.
3. How should I prepare my child for the test and what is the genetic counselling requirement?
A mandatory pre-genetic counselling session is conducted where a clinical geneticist records a three-generation family pedigree, explains the inheritance pattern, and obtains informed consent. The blood sample is then collected by a specialist paediatric phlebotomist using a standard EDTA tube or a painless finger-prick dried blood spot (FTA card), with no fasting or dietary restrictions required. The counselling ensures the family understands possible outcomes such as variant of uncertain significance.
UAE Regulatory & Data Privacy Adherence
Compliance Framework & Data Governance
All genetic testing services strictly adhere to the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient safety and clinical accountability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory operates under DHA Facility License No. 1143 and holds ISO 9001:2015 certification, guaranteeing quality management and traceability from sample collection to reporting.
Clinical & Logistical Metadata
| Test Name | FTO Gene NGS Test for Growth Retardation, Developmental Delay, and Facial Dysmorphism |
| Price (AED) | 2,800 |
| Turnaround Time | 3 - 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or Dried Blood Spot (FTA card) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS), exon-level coverage |
| ICD-10-CM Code | Q87.8, R62.52, F88 |
| LOINC Code | 65887-0 |
| DHA Facility License & Laboratory Address | 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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