Test Price
2,800 AEDโ Home Collection Available
B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
The B4GALT7 gene NGS test delivers precise detection of pathogenic variants associated with Ehlers-Danlos syndrome progeroid type 1, achieving 99.9% diagnostic sensitivity through ISO 9001:2015 certified processing. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM. Post-test result interpretation is provided by Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA: 9294403). Direct billing verification is available via WhatsApp at +971 54 548 8731.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Certified Processing
- Premium Logistics: VIP Mobile Phlebotomy & Cold-Chain Home Collection (8 AM โ 11 PM Daily)
- Clinical Guidance: Post-Test Result Interpretation by DHA-Licensed Consultant Medical Geneticist
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
Next-Generation Sequencing (NGS) on the Illumina NovaSeq X platform provides comprehensive coverage of all coding exons and intron-exon boundaries at >100x depth, enabling reliable detection of point mutations, small insertions/deletions, and large rearrangements in the B4GALT7 gene. This test is indicated for individuals presenting with early-onset skin fragility, joint hypermobility, growth retardation, and progeroid features, supporting definitive diagnosis and family risk assessment.
| Feature | Our NGS Test | Sanger Sequencing (Alternative) |
|---|---|---|
| Technology | Next Generation Sequencing (Illumina NovaSeq X) | Single-gene Sanger sequencing |
| Coverage | Full gene with intron-exon boundaries, >100x depth | Limited to targeted exons, lower detection of large rearrangements |
| Turnaround Time | 21โ28 Business Days | 6โ8 Weeks |
| Analytical Sensitivity | 99.9% | ~98% (may miss copy number variants) |
| Clinical Utility | Comprehensive variant detection; ideal for definitive diagnosis and family screening | Useful for familial variant confirmation only if mutation known |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): โIdentifying a pathogenic B4GALT7 variant provides a definitive molecular diagnosis, yet careful clinical correlation with physical findings such as skin hyperextensibility, joint hypermobility, and distinctive facial features remains essential. This test delivers actionable information for tailored surveillance and family counseling. Our team offers pre- and post-test genetic counseling to address any questions or concerns throughout the diagnostic journey.โ
Safety Advisory for Sample Collection
Pre-Procedure Guidance
Sample collection is performed by DHA-licensed phlebotomists using sterile single-use equipment. Patients with a known bleeding disorder or INR above 3.0 should inform the clinical team prior to scheduling. No fasting is required for this test. A clinical history review and genetic counseling session are strongly advised before testing to document pedigree and assess hereditary patterns.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Inability to provide informed consent
- Active systemic infection or fever exceeding 38.5ยฐC
- Known bleeding disorder with INR above 3.0
Post-Collection Red Flags
- Severe pain, rapidly expanding hematoma, dizziness, numbness, or signs of infection at collection site โ seek emergency medical attention immediately.
Patient FAQ & Clinical Guidance
1. What is the B4GALT7 gene test and who should consider it?
This advanced genetic test screens for mutations in the B4GALT7 gene associated with Ehlers-Danlos syndrome progeroid type 1, particularly recommended for individuals with early-onset skin fragility, joint hypermobility, and growth retardation. It is most relevant for patients presenting with progeroid features, persistent joint dislocations, and a family history of connective tissue disorders. A genetic counseling session prior to testing helps interpret the hereditary pattern and implications for blood relatives.
2. How accurate is the NGS testing method used?
Our next-generation sequencing platform delivers 99.9% analytical sensitivity with comprehensive coverage of all coding exons, ensuring reliable detection of both point mutations and large deletions. Validation studies on reference samples demonstrate concordance above 99.8% with established databases. The method meets CAP/CLIA-equivalent quality metrics, providing confidence for clinical decision-making.
3. What should I expect during the home blood collection process?
A DHA-licensed phlebotomist arrives at your scheduled time with a full sterile kit, collects a small blood sample either from a vein or via finger prick, and transports it under temperature-controlled conditions within 30 minutes. You can remain in the comfort of your home; the entire visit lasts approximately 15 minutes. For minors, a guardian must be present to provide consent as per UAE regulations.
4. How long does it take to receive results and how are they delivered?
Results are typically available within 21โ28 business days from sample receipt. A comprehensive clinical report is delivered electronically via secure portal, and a telephonic consultation with the consultant medical geneticist is scheduled to explain findings, discuss implications, and outline recommended next steps for management and family screening.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This service operates in full compliance 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 clinical testing safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory processing follows ISO 9001:2015 certified protocols under DHA facility license 1143. Patient data is encrypted and stored in secure UAE-based servers. Direct billing verification is available via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 21โ28 Business Days |
| Sample Type / Matrix | Whole Blood (EDTA, 2โ5 mL) or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq X |
| ICD-10-CM Code | Q79.6 |
| LOINC Code | 21665-7 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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