Test Price
2,800 AEDโ Home Collection Available
B3GALT6 Gene Sequencing for Ehlers-Danlos Syndrome, Progeroid Type 2 (NGS) in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited Processing (NGS).
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.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The B3GALT6 gene NGS test definitively diagnoses Ehlers-Danlos Syndrome, progeroid type 2 (EDSP2), a rare connective tissue disorder characterized by severe skin fragility, progeroid facies, and joint hypermobility. This targeted sequencing screen identifies biallelic pathogenic variants in the B3GALT6 gene, empowering precise clinical management, surveillance for osteopenia and cardiovascular anomalies, and informed genetic counseling in the UAE.
| Feature | Our Test (NGS โ B3GALT6) โ 2800 AED | Standard EDS Genetic Panel (NGS) |
|---|---|---|
| Precision | Single-gene high-depth sequencing with 99.9% analytical sensitivity for B3GALT6 mutations | Multigene panel; may have lower coverage for rare genes like B3GALT6 |
| Methodology | Next Generation Sequencing (NGS) with confirmatory Sanger sequencing for pathogenic variants | NGS with limited Sanger confirmation; may miss deep intronic variants |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks (variable, dependent on lab load) |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403): As a Consultant Medical Genetics specializing in heritable connective tissue disorders, I emphasize that this genetic result must be interpreted alongside a thorough clinical examination and family pedigree analysis. A positive finding confirms the diagnosis but does not define the individualโmany patients lead fulfilling lives with multidisciplinary care. I strongly encourage a teleconsultation to discuss your results, explore surveillance protocols, and address any familial implications.
Safety Exclusion Criteria & Emergency Red Flags
- Active febrile illness or uncontrolled systemic infection โ postpone collection until resolved.
- Suspected acute vascular event (e.g., spontaneous arterial rupture in EDS) โ seek emergency care immediately before testing.
- ER Red Flags: Sudden severe chest or abdominal pain, unexplained limb weakness, or vision loss in a known EDS patient โ dial 998.
- Anticoagulant Therapy: Inform the phlebotomist; a one-drop blood on FTA card option may be used to minimize bleeding risk.
Patient FAQ & Clinical Guidance
1. What is the clinical indication for the B3GALT6 gene test?
Snippet: This test is indicated when a patient presents with severe skin fragility, progeroid facies, and joint hypermobility suggestive of Ehlers-Danlos syndrome progeroid type 2. It identifies biallelic pathogenic variants in B3GALT6, confirming EDSP2 and guiding surveillance for osteopenia, muscle hypoplasia, and cardiovascular anomalies.
2. How should I prepare for the at-home blood collection?
Snippet: No fasting is required; simply ensure the venipuncture site is clean and inform our phlebotomist of any bleeding disorder or anticoagulant use. You may also provide a one-drop blood sample on an FTA card, which is painless and ideal for infants. The ISO-certified cold-chain transport guarantees sample integrity from your doorstep to our Dubai lab.
3. Is pediatric testing available and legally compliant in the UAE?
Snippet: Yes, minors can be tested with formal parental consent and pre-test genetic counseling, fully respecting data privacy regulations under Federal Decree-Law No. 45 of 2021. All pediatric samples are processed in accordance with the highest ethical standards, and we require a signed parental consent form prior to collection.
4. What is the turnaround time for the B3GALT6 NGS test?
Snippet: The standard turnaround time is 3 to 4 weeks from sample receipt. This rigorous timeline ensures comprehensive sequencing data analysis, confirmatory Sanger testing, and thorough clinical review by our consultant genetics team.
5. How is my genetic data protected under UAE law?
Snippet: Your genetic and personal data is fully 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. Results are encrypted, access-controlled, and never shared with third parties without your explicit consent.
UAE Regulatory & Data Privacy Adherence
Your Data Security & Clinical Safety
DNA Labs UAE strictly adheres to the highest standards of medical data privacy and clinical safety as mandated by UAE federal law. Our practices are fully compliant with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, processing, and storage of your genomic and personal health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ ensuring secure digital health infrastructure and telemedicine integration.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ guaranteeing patient safety and clinical accountability in diagnostic procedures and genetic counseling.
Clinical & Logistical Metadata
| Test Name | B3GALT6 Gene Sequencing for Ehlers-Danlos Syndrome, Progeroid Type 2 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (VIP Mobile Phlebotomy & Cold-Chain Home Collection Available) |
| Methodology Used | Next Generation Sequencing (NGS) + Confirmatory Sanger Sequencing |
| ICD-10-CM Code | Q79.6 |
| LOINC Code | 57903-0 |
| DHA Facility License & Laboratory Address Invariants | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No: 1143 | Brand: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians