Test Price
2,800 AED✅ Home Collection Available
MAFB Gene – Multicentric Carpotarsal Osteolysis Syndrome (MCTO) Genetic Test – 2,800 AED – DHA Licensed
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS & Sanger confirmation.
- ✓ Premium Logistics: Hospital‑grade Home Collection (8 AM‑11 PM) with ISO Certified Cold‑Chain transport and VIP Mobile Phlebotomy.
- ✓ Clinical Guidance: Complimentary telephonic post‑test counselling with a clinical geneticist for result interpretation.
- ✓ Insurance: Direct billing verification and pre‑approval via WhatsApp at +971 54 548 8731 – we handle your policy documents securely.
Test Overview & Methodology
The MAFB Gene NGS Test is a definitive molecular diagnostic tool for Multicentric Carpotarsal Osteolysis Syndrome (MCTO), a rare autosomal dominant skeletal dysplasia characterized by progressive osteolysis of the carpal and tarsal bones, often accompanied by dermatological and immunological manifestations. This assay sequences the entire coding region and splice sites of the MAFB gene, uncovering pathogenic variants with pinpoint accuracy.
| Feature | Our DHA‑Certified MAFB NGS Test | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Target Gene | MAFB single‑gene deep coverage | All ~20,000 genes; MAFB coverage can be shallow |
| Methodology | NGS (Illumina® NovaSeq) + Sanger confirmation | NGS whole‑exome; often no orthogonal validation |
| Diagnostic Sensitivity | 99.9% | ~95% (varies by capture kit) |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Cost (AED) | 2,800 | 5,000–8,000 |
| Clinical Utility | Immediate, actionable result for MCTO; no incidental findings | Many incidental findings; requires complex interpretation |
Physician Insight & Safety Protocols
“Our team understands the anxiety a rare diagnosis like MCTO can bring – we are here to support you with compassion and clinical expertise. This test offers a highly sensitive molecular diagnosis, but it must be interpreted in conjunction with full clinical and radiological assessment. A negative result does not fully exclude the syndrome; variant reclassification may occur later, so regular follow‑up with your specialist remains vital.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Safety Considerations
⚠ Do not discontinue or adjust any prescribed medication without consulting your treating doctor.
Genetic test results are advisory and must be integrated into your overall care plan. Abruptly stopping medications can lead to serious health risks.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- You are under 18 years old without a legal guardian’s informed consent (as per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- You have a severe bleeding disorder where routine venipuncture is contraindicated.
- You are unable to provide valid informed consent for genetic testing due to cognitive or legal reasons.
- You are currently in an acute medical crisis that requires immediate emergency care.
Seek emergency care if you experience:
- Rapidly worsening joint pain, swelling, or inability to bear weight.
- Signs of renal involvement – decreased urine output, facial swelling, or persistent vomiting.
- High fever with chills accompanied by new skin lesions or ulcerations.
- Sudden visual disturbance or severe headache (possible CNS involvement).
A mandatory pre‑test genetic counselling session is required to explain the test’s scope, limitations, and implications under UAE healthcare regulations.
Patient FAQ & Clinical Guidance
1. How accurate is this MAFB gene test, and can it miss mutations?
Our DHA‑certified achieves 99.9% diagnostic sensitivity by sequencing all coding exons with Sanger confirmation, leaving virtually no room for false negatives. We use deep NGS coverage (>1000x) of the entire MAFB gene, including flanking splice regions, and every pathogenic variant is orthogonally validated by Sanger sequencing. However, variants in deep intronic or regulatory regions may not be detected, and large deletions/duplications might require supplementary MLPA analysis. Your genetic counsellor will discuss these limitations transparently before sampling.
2. How soon will I get my results, and what should I do after?
Your final report is ready in 3–4 weeks, and our genetic counsellor will call you to explain every finding and coordinate with your specialist. Once the sequencing is complete and validated, we issue a bilingual DHA‑compliant report that includes the variant description, pathogenicity classification, and clinical correlation. You will receive a tele‑consultation link; never attempt to interpret the result alone. We then send the approved report directly to your dermatologist, rheumatologist, or orthopaedic surgeon so they can adjust your management plan immediately.
3. Can the sample be collected at home, and is insurance accepted?
Yes, our VIP mobile phlebotomy team visits your home from 8 AM to 11 PM across all UAE emirates, and we verify direct insurance billing via WhatsApp before your appointment. Once you provide your insurance details, our coordinators obtain a pre‑authorisation code, and the collection nurse arrives with an ISO 9001:2015‑certified cold‑chain kit. For self‑pay patients, the fee is 2,800 AED. A small finger‑prick DBS (dried blood spot) option on FTA card is also available for children with delicate veins, though venous blood remains the gold standard.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres 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. All genetic data is encrypted, access-controlled, and processed with explicit patient consent. Our laboratory maintains ISO 9001:2015 certification and participates in external quality assessment programs.
Clinical & Logistical Metadata
| Parameter | Details |
|---|---|
| Test Name | MAFB Gene Sequencing (Multicentric Carpotarsal Osteolysis Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood or Dried Blood Spot (DBS) on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | M89.51 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians