Also known as: Primary Hypertrophic Osteoarthropathy Type 1 (PHOAR1), Pachydermoperiostosis
Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 Weeks
HPGD Gene Hypertrophic Osteoarthropathy Type 1 Genetic Test in UAE | 2,800 AED
8 AM โ 11 PM Daily
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all seven emirates.
Clinical Guidance: Telephonic Post-Test Genetic Counselling for result interpretation by qualified genetic counsellors.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 โ Pre-approval confirmed before sample collection.
Test Overview & Methodology
The HPGD Gene Hypertrophic Osteoarthropathy Type 1 Genetic Test is a definitive molecular diagnostic assay that sequences the entire coding region of the HPGD gene (15-hydroxyprostaglandin dehydrogenase) using Next Generation Sequencing (NGS). This test confirms or excludes Primary Hypertrophic Osteoarthropathy Type 1 (PHOAR1), also known as pachydermoperiostosis, an autosomal recessive disorder characterised by digital clubbing, periostosis, and pachydermia. Early genetic diagnosis enables targeted management and differentiates from secondary causes.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) | Capillary Sanger Sequencing |
| Coverage | Full gene โ all exons, splice sites, and flanking intronic regions | Single amplicon per reaction; limited throughput |
| Diagnostic Sensitivity | 99.9% | ~95% (variant-dependent) |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Sample Options | Whole Blood / Extracted DNA / Dried Blood Spot (FTA Card) | Whole Blood only |
| Price | 2,800 AED | Variable (1,800โ3,500 AED) |
Physician Insight & Safety Protocols
"A positive HPGD variant report must always be interpreted within the full clinical context โ digital clubbing, periostosis, and skin thickening together form the diagnostic triad of primary hypertrophic osteoarthropathy. I remind every patient that genetic confirmation provides clarity but does not replace clinical follow-up with your dermatologist and rheumatologist. A negative result likewise does not exclude secondary causes, and further investigation may still be warranted if symptoms persist."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Important Clinical Notice
Do not discontinue any prescribed medication without consulting your doctor. This genetic test is diagnostic in nature and does not assess pharmacological response. Medications for joint pain, skin manifestations, or prostaglandin-modulating therapies must be managed exclusively by your treating physician.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria:
- Individuals under 18 years of age without documented guardian consent (per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Inability or unwillingness to provide informed consent for genetic data processing under UAE PDPL (Federal Decree-Law No. 45 of 2021).
- Prior allogeneic bone marrow transplant within 90 days (donor DNA interference).
- Active chemotherapy within 14 days (may affect leukocyte-derived DNA quality).
Seek Immediate Medical Attention If:
- Acute, severe bone or joint pain with erythema and warmth โ may indicate secondary osteomyelitis.
- Sudden worsening of digital clubbing with cyanosis โ evaluate for underlying pulmonary or cardiac pathology.
- Skin ulceration or breakdown over affected joints with signs of systemic infection (fever >38.5ยฐC).
- New-onset respiratory distress in a patient with known hypertrophic osteoarthropathy.
Patient FAQ & Clinical Guidance
1. What does a positive HPGD gene test mean for my diagnosis and treatment?
A positive HPGD gene test confirms a diagnosis of Primary Hypertrophic Osteoarthropathy Type 1 with greater than 99.9% diagnostic certainty, enabling your specialist team to initiate targeted prostaglandin-modulating therapies and establish a personalised surveillance plan for skeletal and cutaneous manifestations. Treatment typically includes COX-2 inhibitors, corticosteroids for acute flares, and regular rheumatologic and dermatologic follow-up โ but all therapeutic decisions must be made by your treating physicians based on your complete clinical picture.
2. How is the sample collected and how long do results take?
Sample collection is performed via a standard venipuncture (blood draw) or a simple finger-prick for FTA card collection by a DHA-licensed phlebotomist during your scheduled home visit between 8 AM and 11 PM, with results delivered within 3 to 4 weeks from the date the sample reaches our ISO-certified genomic laboratory. The comprehensive report includes variant nomenclature (HGVS format), zygosity, pathogenicity classification per ACMG guidelines, and clinical correlation recommendations.
3. Is this test covered by insurance, and what support is available after results?
Direct billing verification with all major UAE insurers is processed via WhatsApp at +971 54 548 8731 before your appointment, and every patient receives a complimentary telephonic post-test genetic counselling session to review results, discuss implications for family members, and plan any necessary cascade testing.
UAE Regulatory & Data Privacy Adherence
Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genetic data is encrypted at rest (AES-256) and in transit (TLS 1.3). Data retention follows PDPL guidelines. Patients retain the right to request data deletion, restrict processing, and receive a complete copy of their genetic data in standard BAM/VCF format.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: This test operates under full compliance with health data protection, storage, and transmission standards as mandated for all digital health records and genetic information in the UAE.
Federal Decree-Law No. 4 of 2016 on Medical Liability: Informed consent procedures and patient safety protocols strictly adhere to this law, ensuring that all genetic testing for minors is accompanied by documented guardian consent and medical necessity determination.
ISO 9001:2015 Certification: Quality Management System certified under Certificate No. INT/EGQ/2509DA/3139, ensuring standardised operating procedures across all phases โ pre-analytical, analytical, and post-analytical.
Clinical & Logistical Metadata
| Test Name | HPGD Gene Hypertrophic Osteoarthropathy Type 1 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | M89.41 |
| LOINC Code | 81247-9 |
| DHA Facility License & Address | DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No specific fasting required", "No specific medication or diet restrictions"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians