Test Price
2,800 AEDโ Home Collection Available
HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test in UAE | AED 2,800
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO Accredited Processing
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
Telephonic Post-Test Clinical Guidance for Result Interpretation
Direct Insurance Billing Verification via WhatsApp +971 54 548 8731
Executive Summary: High-precision genetic test for D-bifunctional protein deficiency, compliant with DHA standards and international guidelines.
Test Overview & Methodology
The HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test identifies pathogenic variants in the HSD17B4 gene using next-generation sequencing, enabling precise molecular diagnosis of this rare peroxisomal disorder for infants and children presenting with hypotonia and seizures.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Methodology | NGS Full-Gene Sequencing | Sanger Sequencing (Targeted) |
| Gene Coverage | Complete HSD17B4 coding region + splice sites | Limited known pathogenic mutations only |
| Diagnostic Sensitivity | 99.9% (ISO validated) | ~85% (misses private variants) |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Price | AED 2,800 | AED 2,500 โ 3,000 |
Physician Insight & Safety Protocols
โThis next-generation sequencing test provides definitive molecular confirmation for HSD17B4 deficiency. However, results should always be correlated with biochemical markers and clinical presentation. I recommend pre- and post-test genetic counseling to ensure families fully understand implications.โ
โ Genetic Counseling Advisory
Results from this test may reveal incidental findings or carrier status. Do not make medical decisions based solely on genetic results without consulting a qualified geneticist. Psychological support and family planning options should be discussed during counseling sessions.
๐ Safety Exclusion & ER Red Flags
- Exclusion Criteria: Testing is not clinically indicated for asymptomatic individuals without a supportive family history or biochemical suspicion.
- Emergency Red Flags: If the patient develops sudden seizures, severe hypotonia with breathing difficulty, or unresponsiveness, seek immediate hospital care โ these may signal acute metabolic decompensation.
- Pediatric Caution: For minors, a legal guardianโs consent and pediatric metabolic specialist referral are mandatory before sample collection, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is D-bifunctional protein deficiency and why is this test performed?
D-bifunctional protein deficiency is a genetic peroxisomal disorder causing severe neurological decline; this test confirms the diagnosis. The NGS test reads the entire HSD17B4 gene to identify mutations that lead to the inability to break down very-long-chain fatty acids, allowing clinicians to tailor dietary and supportive therapies early in life.
2. How is the sample collected and what is the turnaround time?
A simple blood sample or FTA card DNA sample is collected at home; results are ready in 3โ4 weeks. Our DHA-licensed mobile phlebotomist visits you at your convenience (8 AM to 11 PM), collects a small blood volume or a few drops on an FTA card using temperature-controlled cold-chain transport. The DNA is then sequenced and analyzed by our ISO-certified laboratory.
3. Does this require a doctor's referral and is it covered by insurance?
A doctor's referral is recommended for clinical correlation; insurance coverage can be verified via WhatsApp. While a referral helps integrate genetic results into the patientโs care plan, you can also self-request testing. Our team verifies your insurance benefits directly with major UAE insurers; simply share your policy details on +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
This diagnostic service strictly adheres to 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 processed under ISO 9001:2015 certified protocols, ensuring confidentiality and security. The laboratory holds DHA Facility License No. 1143 and operates under the corporate brand DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood or FTA card (dried blood spot) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coding region and splice site analysis |
| ICD-10-CM Code | E71.510 |
| LOINC Code | 82213-8 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
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.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians