Test Price
2,800 AED✅ Home Collection Available
HSPG2 Gene Dyssegmental Dysplasia, Silverman-Handmaker Type Genetic Test in UAE | 2800 AED | DHA Licensed
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 (Available daily from 8 AM to 11 PM).
🧑⚕️ Clinical Guidance
Complimentary Telephonic Post‑Test Genetic Counseling with a DHA‑licensed Clinical Genetics Consultant.
📋 Insurance & Pricing
Direct Billing Verification via WhatsApp +971 54 548 8731. Test Price: 2,800 AED.
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyzes the entire coding region of the HSPG2 gene to confirm a suspected diagnosis of Dyssegmental Dysplasia, Silverman‑Handmaker Type—a rare autosomal recessive skeletal disorder. Three highly relevant UAE specialists—Clinical Geneticist, Pediatric Orthopedic Surgeon, and Dermatologist—utilize the result to guide precise management and family planning.
| Feature | Our Test – ISO NGS Panel | Closest Alternative – Single‑Gene Sanger |
|---|---|---|
| Precision | ≥99.9% sensitivity for all coding variants | ~98% sensitivity, may miss deep intronic/regulatory variants |
| Methodology | Massively Parallel Sequencing (NGS) + MLPA backup | Capillary sequencing of exons only |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Types | Blood, DNA FTA Card, Extracted DNA | Whole Blood only |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Genetics who has counselled families facing rare skeletal dysplasias, I know this test can feel overwhelming. The molecular confirmation it provides is the cornerstone of personalized care—from neonatal intervention to recurrence risk assessment. Please remember that genetic results are only one piece of the clinical puzzle; we always correlate them with your child’s full medical picture.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Supplement Precautions
⚠️ Important: Do not discontinue any prescribed medication or supplements without consulting your treating physician. Some substances can interfere with DNA quality or increase bleeding risk during blood draw.
Safety Exclusion Criteria & ER Red Flags
- Exclusion: Blood transfusion or platelet‑rich plasma therapy within 14 days (may dilute circulating DNA).
- Exclusion: Active systemic infection requiring IV antibiotics (postpone until 48 h after last dose).
- Red Flag – Seek Immediate ER Care if: Sudden respiratory distress, severe spinal curvature progression causing pain, or any sign of cord compression in an infant.
- Red Flag: Unexplained seizures or loss of motor milestones—urgent neurological evaluation required.
Patient FAQ & Clinical Guidance
1. What does the HSPG2 gene test reveal about Silverman-Handmaker syndrome?
The HSPG2 gene encodes perlecan, a protein essential for cartilage and skin basement membrane stability. Identifying pathogenic variants confirms the diagnosis of this severe, often lethal dyssegmental dysplasia. The test detects mutations that help guide clinical management and family planning.
2. How is the sample collected for this genetic test?
A certified phlebotomist visits your home to draw a small blood sample (or a painless cheek swab) which is immediately placed in a cold chain. You may also provide a DNA FTA card if preferred. Collection is available daily from 8 AM to 11 PM.
3. How long until I receive the result, and is genetic counseling included?
Results are ready within 3–4 weeks. A complimentary telephonic post‑test counseling session with a DHA‑licensed clinical genetics expert is included. You will discuss implications, next steps, and family screening options.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies with all relevant UAE federal laws governing genetic testing and health data privacy:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensures your genetic data is processed lawfully and securely.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governs the use of digital health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – guarantees safe clinical practice and patient consent.
Your test is performed under a DHA-licensed facility adhering to the highest standards of confidentiality and ethical practice.
Clinical & Logistical Metadata
| Test Name | HSPG2 Gene Full Sequencing – Dyssegmental Dysplasia, Silverman-Handmaker Type |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, DNA FTA Card, Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Massively Parallel Sequencing, with MLPA backup for copy number variants |
| ICD-10-CM Code | Q77.8 (Other osteochondrodysplasia with defects of growth of tubular bones and spine) |
| LOINC Code | 94120-2 (HSPG2 gene mutation analysis) |
| DHA Facility License & Laboratory Address Invariants | DHA License: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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