Test Price
2,800 AED✅ Home Collection Available
DSE Gene (Ehlers-Danlos Syndrome, Musculocontractural Type 2) Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015, Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Genetic Test analyzes the DSE gene for mutations causing Ehlers-Danlos musculocontractural type 2, a rare connective tissue disorder marked by distinct craniofacial features, multiple contractures, and skin fragility. Next-Generation Sequencing (NGS) enables simultaneous full exon and splice-site coverage, detecting single nucleotide variants, small insertions/deletions, and copy number variations with 99.9% analytical sensitivity.
| Feature | Our DSE NGS Test | Traditional Sanger Test |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) – full exon coverage | Sanger sequencing – only known hotspots |
| Throughput | All coding regions + splice sites simultaneously | One amplicon at a time; slow |
| Sensitivity | 99.9% analytical, detects SNVs, indels, CNVs | 99% for SNVs only, misses large rearrangements |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks (often multi-step) |
| Cost (in UAE) | 2,800 AED (all-inclusive) | ~4,500 AED (fragmented billing) |
Physician Insight & Safety Protocols
"Genetic testing for a rare Ehlers-Danlos subtype is a critical step toward personalized care and family planning. A positive DSE mutation confirms the diagnosis, but clinical correlation with symptoms and a detailed family history is essential. This test does not replace a comprehensive physical examination, and I strongly recommend genetic counseling before and after testing."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results may influence treatment plans, but any change must be supervised by your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Uncontrolled bleeding disorders, active skin infections at venipuncture site, inability to provide informed consent (for minors, parental consent and court order may be required per UAE Child Protection Law), or prior allogeneic bone marrow transplant (may compromise DNA integrity).
- Emergency Red Flags: If you experience severe allergic reaction (anaphylaxis), severe dizziness, or uncontrolled bleeding after sample collection, seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of DSE gene testing for EDS musculocontractural type 2?
Direct Answer: This next-generation sequencing test identifies DSE gene mutations confirming Ehlers-Danlos musculocontractural type 2, directing personalized care plans.
Once diagnosed, specialists such as a Clinical Geneticist (to interpret inheritance and family risk), a Dermatologist (to manage severe skin fragility and atrophic scarring), and a Sports Medicine Specialist (to address joint contractures and musculoskeletal rehabilitation) can design a proactive surveillance protocol. The report includes recommendations for cardiac echo, ophthalmologic screening, and orthopedic bracing based on the specific DSE variant.
2. How is the sample collected and what is the turnaround time?
Direct Answer: Home-based blood collection is performed by our certified phlebotomists via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, with reports delivered within three to four weeks.
You can choose a single blood draw (3–5 mL EDTA tube), or a simple buccal swab or dried blood spot on an FTA card for infants or patients with difficult veins. Our VIP mobile team ensures cold-chain transport to our ISO-certified laboratory. The complete analytical pipeline—DNA extraction, library preparation, NGS, bioinformatics, and clinical interpretation—takes 3–4 weeks. An expedited 2-week option is available for an additional fee if a geneticist's urgent referral is provided.
3. Is genetic counseling required before testing?
Direct Answer: UAE law mandates pre-test genetic counseling to explain risks, benefits, and family implications before sampling.
Per Federal Decree-Law No. 4 of 2016 on Medical Liability and the UAE Child Protection (Wadeema) Law, all genetic testing requires documented informed consent. For minors, both parents must attend a counseling session where a pedigree chart tracing the DSE gene through the family is drawn. Our lab provides a complimentary 30-minute tele-counseling session with a DHA-licensed genetic counselor before the blood draw. This ensures you fully understand autosomal recessive inheritance patterns, possible variants of uncertain significance, and implications for siblings and future pregnancies.
4. What are the implications of a variant of uncertain significance (VUS)?
Direct Answer: A VUS means the DNA change identified has unclear clinical impact; it is not definitively disease-causing nor definitively benign.
If a VUS is reported, our genetic counselor will review the case with our molecular genetics team and may recommend segregation studies in family members (parental testing). In many cases, a VUS is reclassified within 12–24 months as global databases expand. Your report will include a VUS follow-up clause, ensuring you are notified of any reclassification updates at no additional cost.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected 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. All genetic test results are encrypted, access-restricted, and never shared with third parties without your explicit written consent. Clinical testing safety and patient consent protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | DSE Gene (Ehlers-Danlos Syndrome, Musculocontractural Type 2) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Exon Coverage |
| ICD-10-CM Code | Q79.6 |
| LOINC Code | 81249-1 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians