Test Price
2,800 AED✅ Home Collection Available
MESP2 Gene Spondylocostal Dysostosis Type 2 (Autosomal Recessive) Genetic Test | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Diagnostic Sensitivity: 99.9% via ISO 15189 Accredited NGS Platform
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available Daily 8 AM – 11 PM)
Post-Test Teleconsultation with a DHA-Licensed Consultant Medical Geneticist
Direct Billing & Insurance Verification via WhatsApp: +971 54 548 8731
Test Overview & Methodology
This advanced next-generation sequencing (NGS) test performs full-gene analysis of the MESP2 locus to detect pathogenic single-nucleotide variants, small insertions/deletions, and copy-number alterations causative of autosomal recessive spondylocostal dysostosis type 2. This severe congenital disorder disrupts vertebral segmentation and rib alignment, leading to a shortened trunk, restrictive lung disease, and progressive spinal deformity. Early molecular confirmation enables tailored surveillance, surgical planning, and informed reproductive counseling for at-risk families.
| Parameter | DNA Labs UAE – Premium NGS Panel | Conventional Sanger Sequencing |
|---|---|---|
| Diagnostic Precision | 99.9% – Full gene coverage including intronic splice regions | ~95% – Limited to targeted exons only |
| Variant Detection | Single-nucleotide variants, indels, and CNVs | Single-nucleotide variants only; no CNV detection |
| Turnaround Time | 3–4 weeks | 5–6 weeks |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasize that MESP2 sequencing is a powerful confirmatory tool, but it must be interpreted alongside thorough clinical and radiological assessment. A negative result does not rule out other genetic etiologies of spondylocostal dysostosis, and pre- and post-test genetic counseling is essential for all families.” — Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Cautionary Guidance
Important Clinical Consideration
Genetic test results should never be used as the sole basis for altering ongoing medical therapy. All treatment decisions must be made collaboratively with your managing physician and should incorporate your complete health history, physical exam findings, and imaging data. The detection of a pathogenic MESP2 variant confirms a diagnosis of spondylocostal dysostosis type 2 but does not predict disease severity or progression.
Patient Exclusion Criteria & Emergency Indicators
Testing Exclusion Criteria
- Inability or unwillingness to provide written informed consent for genetic analysis and data storage.
- Severe thrombocytopenia (platelet count < 50,000/µL) or active bleeding diathesis contraindicating routine venipuncture – a dried blood spot alternative may be considered after clinical assessment.
Urgent Red Flags – Seek Immediate Medical Evaluation
- Progressive lower extremity weakness, sensory loss, or new-onset bladder/bowel incontinence suggestive of spinal cord compression.
- Acute onset of severe respiratory distress or oxygen desaturation related to thoracic cage deformity.
Patient FAQ & Clinical Guidance
1. What does the MESP2 gene test detect and who should consider it?
This test identifies disease-causing mutations in the MESP2 gene responsible for autosomal recessive spondylocostal dysostosis type 2, a disorder characterized by fusion and malformation of the vertebrae and ribs. Individuals with a short-trunk appearance, multiple vertebral segmentation defects on imaging, a family history of similar skeletal anomalies, or consanguineous parentage are primary candidates for this analysis.
2. How is the biological sample collected and what level of discomfort is expected?
A peripheral whole blood sample (3–5 mL drawn from an antecubital vein) or a simple finger-prick dried blood spot collected on an FTA card is required. Both methods involve minimal, transient discomfort. Our VIP mobile phlebotomists are trained in pediatric- and needle-phobic-friendly techniques to ensure a painless experience. Collection is available daily from 8 AM to 11 PM via temperature-controlled cold-chain transport.
3. How reliable are the results and what post-test support is provided?
Our ISO-accredited molecular diagnostics laboratory achieves 99.9% analytical sensitivity for MESP2 sequencing through stringent internal quality controls and orthogonal variant confirmation. After result delivery, you will receive a detailed telephonic consultation with a DHA-licensed genetic counselor who will explain the clinical significance, recurrence risks, and reproductive options available to your family.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the UAE legislative framework governing genetic testing and patient data protection. All patient information is processed under 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, patient consent, and medical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our DHA-licensed facility adheres to the Dubai Health Authority’s standards for genetic testing, ensuring that your data remains confidential, secure, and used solely for diagnostic purposes with your explicit informed consent.
Clinical & Logistical Metadata
| Test Name | MESP2 Gene Spondylocostal Dysostosis Type 2 (Autosomal Recessive) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or dried blood spot (FTA card) |
| Methodology Used | Next Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | Q76.42 |
| LOINC Code | 93315-7 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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