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Test Price

2,800 AED

✅ Home Collection Available

FMR1 Gene (Fragile X Syndrome) Genetic Test in UAE

Executive Summary & Core Metrics

Executive Summary: The FMR1 NGS Comprehensive Analysis provides definitive diagnosis for Fragile X Syndrome through advanced CGG repeat expansion detection, methylation profiling, and rare sequence variant identification. Achieves 99.9% diagnostic sensitivity via ISO-accredited processing with complete mutation classification in a single workflow. VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Post-test telephonic clinical guidance included. Pricing: 2,800 AED inclusive of full analysis.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain and VIP Mobile Phlebotomy.
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The FMR1 NGS test comprehensively analyses the FMR1 gene for CGG repeat expansions, methylation status, and rare sequence variants associated with Fragile X syndrome, providing definitive diagnostic and carrier information. This single-workflow assay replaces older multi-step methods by identifying full mutations, premutations, mosaicism, and point mutations simultaneously, reducing inconclusive results and reflex testing.

Feature Our Premium Test Closest Alternative (PCR‑only)
MethodNGS + Methylation‑Sensitive AnalysisFragment‑length PCR
Detection RangeFull mutation, premutation, mosaicism, point mutationsCGG repeat size up to ~200 repeats; methylation not assessed
Turnaround Time3–4 Weeks2–3 Weeks
Clinical ConfidenceMinimises inconclusive results; clarifies AGG interruption statusMay require reflex Southern blot for large expansions

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403), notes: “As a medical geneticist, I recognise the profound implications of Fragile X syndrome testing for individuals and families. This NGS-based assay provides comprehensive diagnostic clarity by detecting full mutations, premutations, mosaicism, and point mutations in a single analytical workflow. I strongly recommend that all patients engage with a certified genetic counsellor both before and after testing to fully understand the clinical and familial implications of their results.”

Medication Advisory

⚠️ Do Not Discontinue Prescribed Medication

Continue all prescribed therapies unless explicitly directed by your treating physician. Abruptly stopping medications may lead to adverse clinical outcomes. If you have concerns about drug interactions or genetic testing interference, consult your doctor before making any changes.

Exclusion Criteria & Red Flags

Contraindications for Sample Collection

  • Patients with active bleeding disorders (e.g., severe haemophilia) require physician clearance prior to blood draw.
  • Minors (<18 years) must be accompanied by a legal guardian; home collection for minors requires guardian consent and complies with Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Seek emergency care immediately if you experience fever >38.5°C, severe headache, or loss of consciousness following sample collection.

Patient FAQ & Clinical Guidance

1. What is the FMR1 Genetic Test?

It sequences the FMR1 gene to detect CGG repeat expansion, methylation, and point mutations causing Fragile X syndrome. This test replaces older methods by identifying all mutation classes in a single workflow, ensuring fewer ambiguous results and comprehensive family planning information.

2. Who should consider this test in the UAE?

Individuals with intellectual disability, autism, or family history of Fragile X, and carrier screening parents planning pregnancy. Neurologists, paediatricians, and genetic counsellors in the UAE recommend this for any child showing developmental delay, as well as adults with tremor/ataxia of unknown cause.

3. How long do results take and how will I receive them?

Results are ready within 3–4 weeks and delivered via secure PDF to your referring physician. You will also receive a tele-consultation appointment with our clinical team to explain the findings, implications, and next steps, all compliant with UAE data privacy laws.

4. Are there any preparation requirements before the test?

No food or medication restrictions apply. A detailed clinical history including developmental milestones and family pedigree is required. A mandatory genetic counselling session to document affected family members precedes sample collection.

UAE Regulatory & Data Privacy Adherence

Compliance Framework

DNA Labs UAE operates under DHA Facility License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All genetic testing is performed in full adherence to 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. Clinical safety and patient consent protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory processes are ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Results are transmitted through encrypted channels and stored in compliance with UAE health data protection standards.

Clinical & Logistical Metadata

Test NameFMR1 Gene (Fragile X Syndrome) Genetic Test
Price (AED)2,800 AED
Turnaround Time3–4 Weeks
Sample Type / MatrixWhole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card)
Methodology UsedNGS + Methylation-Sensitive Analysis
ICD-10-CM CodeQ99.2
LOINC Code21771-5
DHA Facility License & Laboratory AddressLicense No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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