Test Price
2,800 AED✅ Home Collection Available
B3GALT6 Gene Analysis (Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1) in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary: B3GALT6 gene analysis using next‑generation sequencing (NGS) is the definitive diagnostic test for spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD‑JL1), with or without fractures. The test delivers 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139). Logistics include VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (available daily from 8 AM to 11 PM). Post‑test telephonic clinical guidance is provided by a consultant medical geneticist. Direct billing verification is available via WhatsApp +971 54 548 8731. Price: 2,800 AED.
Test Overview & Methodology
This targeted NGS assay detects pathogenic variants in the entire coding region and splice‑site junctions of the B3GALT6 gene. Sanger sequencing confirms all clinically actionable variants. The methodology ensures 99.9% sensitivity and specificity for B3GALT6‑related disorders, providing a molecular anchor for diagnosis and family counselling.
| Feature | Our Test (B3GALT6 NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity & specificity for B3GALT6 pathogenic variants | ~95% for this gene; broader scope reduces depth of coverage |
| Methodology | Targeted NGS with Sanger confirmation (LC‑MS/MS validated bioinformatics) | Exome capture + NGS; incidental findings require additional consent |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Cost (AED) | 2,800 | Often 4,500+ |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that this targeted NGS test provides a precise molecular diagnosis for SEMD‑JL1. However, results must always be interpreted alongside clinical examination, skeletal imaging, and family history. I strongly recommend sharing your report with a rheumatologist or orthopaedic surgeon for comprehensive management and genetic counselling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Medication Advisory
⚠️ Important Medication Information
Do not discontinue any prescribed medications, including analgesics or disease‑modifying agents, based solely on test results. Always consult your treating physician before making changes to your therapy. This genetic test informs diagnosis, not immediate treatment modification.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection
- Active febrile illness (oral temperature >38°C) within 24 hours of collection.
- Known bleeding diathesis or INR >3.0 (unless cleared by a physician).
- Cutaneous infection, ulceration, or haematoma at the venipuncture site.
Emergency Red Flags – Seek Immediate Medical Attention
- Acute, severe back pain with new‑onset leg weakness or numbness (possible spinal cord compression).
- Sudden inability to bear weight or a suspected pathological fracture.
- Joint dislocation associated with intense pain and neurovascular compromise.
Patient FAQ & Clinical Guidance
1. What is the purpose of the B3GALT6 Genetic Test?
This test detects disease‑causing mutations in the entire coding region of the B3GALT6 gene to confirm a diagnosis of spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD‑JL1), with or without fractures. It guides precise clinical management, surveillance, and family planning.
2. How is the sample collected and what are the requirements?
A certified phlebotomist conducts a simple blood draw (peripheral whole blood) during our VIP Mobile Phlebotomy service. Alternatively, we accept extracted DNA or a one‑drop blood spot on an FTA card. Prior clinical history and a genetic counselling session are required.
3. When will I receive the results and what support is available?
Results are delivered within 3 to 4 weeks through a secure online portal, accompanied by a telephonic post‑test clinical guidance session with a Consultant Medical Geneticist (Lina Osama Zaki Quteineh). Direct billing verification is available via WhatsApp +971 54 548 8731.
4. Is this test covered by insurance?
We offer direct billing verification with most UAE insurers. Contact our team on WhatsApp to check your coverage before proceeding. Self‑pay price is 2,800 AED.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance: DNA Labs UAE operates under DHA Facility License No. 1143 and complies with 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 are encrypted, stored on secure UAE‑based servers, and never shared without explicit patient consent. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Laboratory Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and DHA‑approved for genetic testing.
Clinical & Logistical Metadata
| Test Name | B3GALT6 Gene Analysis (Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) – VIP Mobile Phlebotomy & Cold‑Chain Home Collection; also accepts extracted DNA or FTA blood spot |
| Methodology Used | Targeted Next‑Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q77.8 (Other osteochondrodysplasias) |
| LOINC Code | 95240-3 (B3GALT6 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians