Test Price
2,800 AED✅ Home Collection Available
ENPP1 Gene Hypophosphatemic Rickets, Autosomal Recessive Type 2 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This advanced genetic test delivers 99.9% diagnostic sensitivity through ISO-accredited next-generation sequencing, precisely detecting pathogenic ENPP1 gene variants that cause autosomal recessive hypophosphatemic rickets type 2. The service includes VIP home phlebotomy, temperature-controlled cold-chain sample transport, and post-test genetic counseling for result interpretation.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Genetic Counseling for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test analyzes the entire coding region and exon-intron boundaries of the ENPP1 gene to identify biallelic pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 (ARHR2). Early molecular diagnosis enables timely intervention with phosphate and active vitamin D supplementation, improves bone mineralisation outcomes, and informs family planning decisions. The assay achieves greater than 99% coverage of all coding exons at a sequencing depth sufficient to detect heterozygous and homozygous variants, small insertions, and deletions.
| Parameter | DNA Labs UAE NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | High-Coverage Next-Generation Sequencing (Illumina NovaSeq) | Sanger Sequencing (limited to known hotspot regions) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2,800 AED | 3,500–4,500 AED |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasise that comprehensive ENPP1 gene sequencing is a critical tool for confirming autosomal recessive hypophosphatemic rickets type 2. However, genetic findings must be correlated with serum phosphate, alkaline phosphatase, and renal tubular reabsorption of phosphate. Biallelic pathogenic variants are required for a definitive molecular diagnosis; a single heterozygous variant alone is insufficient. Genetic counselling for the patient and at-risk family members is strongly recommended.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Supplement Safety
Do not discontinue prescribed phosphate, active vitamin D analogues (e.g., calcitriol), or any other medication without explicit instruction from your treating physician. Abrupt withdrawal may precipitate severe hypophosphatemia, muscle weakness, and worsening bone deformities. All treatment adjustments must be guided by biochemical monitoring and clinical assessment.
Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide a venous blood sample or FTA card; known haematological disorders that compromise DNA extraction; recent allogeneic bone marrow transplant.
- Seek Immediate Medical Attention (ER) If: Sudden worsening of bone pain, pathological fractures, severe muscle weakness, respiratory distress due to chest deformity, or cardiac arrhythmias.
Patient FAQ & Clinical Guidance
1. What does the ENPP1 NGS test detect?
The test sequences the entire coding region and splice sites of the ENPP1 gene with greater than 99% coverage, identifying biallelic pathogenic mutations that impair inorganic pyrophosphate metabolism, leading to renal phosphate wasting and hypophosphatemic rickets type 2.
2. What sample types are accepted, and how is collection arranged?
We accept whole blood (EDTA tube), extracted DNA, or a one-drop blood spot on an FTA card. A VIP mobile phlebotomist visits your home between 8 AM and 11 PM for collection under temperature-controlled cold-chain conditions.
3. Will my insurance cover the cost of this genetic test?
Many UAE health insurance plans cover medically indicated genetic testing for suspected hereditary rickets. We verify your coverage directly via WhatsApp at +971 54 548 8731 before scheduling your collection appointment.
4. How are results delivered, and is genetic counselling included?
Results are issued within 3–4 weeks and explained during a telephonic post-test genetic counselling session. A board-certified medical geneticist reviews the findings, discusses implications for family members, and provides a written report for your referring physician.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in full compliance with UAE federal data protection and health information governance frameworks. Patient genetic data is processed and stored 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. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | ENPP1 Gene Sequencing – Autosomal Recessive Hypophosphatemic Rickets Type 2 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina NovaSeq, Whole Coding Region & Splice Sites |
| ICD-10-CM Code | E83.31 |
| LOINC Code | 55233-1 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs 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