Test Price
2,800 AED✅ Home Collection Available
PTH1R Gene Sequencing for Blomstrand Chondrodysplasia – NGS Genetic Test in UAE
Executive Summary & Core Metrics
This comprehensive genetic test sequences the entire coding region of the PTH1R gene using Next-Generation Sequencing (NGS) to detect pathogenic variants underlying Blomstrand chondrodysplasia, a lethal perinatal skeletal disorder. Performed at our ISO-accredited, DHA-licensed laboratory, the test delivers definitive molecular diagnosis and supports informed reproductive planning for at-risk families. The service includes pre- and post-test genetic counselling by a DHA-registered Consultant Medical Geneticist, VIP mobile phlebotomy across the UAE, and a detailed clinical report with variant interpretation.
99.9% Diagnostic Sensitivity – ISO-accredited NGS processing with rigorous variant calling across all coding exons.
Hospital-Grade Home Collection – VIP mobile phlebotomy with temperature-controlled cold-chain logistics across all seven emirates.
DHA-Registered Genetic Consultant – Telephonic post-test guidance with a Consultant Medical Geneticist for result interpretation and family planning.
Insurance Direct Billing – Verify instantly via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This molecular test employs high-throughput NGS to sequence all coding regions and conserved splice sites of the PTH1R gene. Pathogenic variants in PTH1R disrupt parathyroid hormone‑related peptide signalling, leading to severe endochondral ossification defects characteristic of Blomstrand chondrodysplasia. The assay detects single nucleotide variants, small insertions and deletions, and novel splice‑site mutations with >99.9% sensitivity and specificity. Results are correlated with clinical and radiological findings to provide a definitive diagnosis.
Our NGS Test vs. Standard Sanger Sequencing
| Feature | NGS Test (DHA-Approved) | Classic Sanger Sequencing |
|---|---|---|
| Diagnostic Sensitivity | >99.9% all coding variants | ~95% targeted only |
| Methodology | High-throughput NGS (full coding exons + splice sites) | Single‑exon capillary electrophoresis |
| Turnaround Time | 3–4 weeks (meticulous validation) | 2–3 weeks |
| Variant Detection | SNVs, indels, novel splice‑site mutations | Known hot‑spot mutations only |
| Clinical Utility | Comprehensive – suitable for carrier screening and prenatal counselling | Limited – primarily confirmatory for known familial variants |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: “As a geneticist specialising in rare paediatric skeletal disorders, I understand the emotional weight carried by families facing a potential diagnosis of lethal chondrodysplasia. This NGS test, performed in our DHA‑licensed facility, provides the molecular clarity necessary for informed reproductive counselling and prenatal planning. Genetic results must always be interpreted alongside detailed ultrasound and radiographic assessments for accurate clinical correlation.”
Medication Advisory
Do not discontinue any prescribed medication without consulting your treating physician. This genetic test does not assess drug metabolism or therapeutic efficacy and should not be used to guide medication adjustments.
Safety Exclusion & Emergency Red Flags
- Exclusion Criteria: This test is indicated for individuals with a clinical or radiological suspicion of skeletal dysplasia or a strong family history of lethal neonatal bone disorders. It is not a first‑line screen for asymptomatic individuals or for routine prenatal screening without prior genetic counselling.
- Not a Substitute: Results do not replace comprehensive multidisciplinary evaluation including paediatric genetics, neonatology, and paediatric orthopaedics.
- ER Red Flag: Immediately seek emergency medical attention if a newborn exhibits severe respiratory distress, thoracic hypoplasia (narrow chest), cyanosis, or signs of heart failure — these may indicate life‑threatening Blomstrand chondrodysplasia.
Patient FAQ & Clinical Guidance
1. What is the PTH1R gene sequencing test for Blomstrand chondrodysplasia?
This next-generation sequencing test examines the entire coding region of the PTH1R gene to identify pathogenic mutations responsible for Blomstrand chondrodysplasia, a lethal perinatal skeletal dysplasia characterised by severe impairment of endochondral bone formation.
2. Who should consider this genetic test?
Individuals with a family history of lethal neonatal skeletal dysplasia, couples with a previous pregnancy affected by Blomstrand chondrodysplasia, or those with ultrasound findings suggestive of severe micromelic dwarfism and advanced skeletal maturation should consider this test.
3. What does a positive result mean for my family?
A positive result confirms the molecular diagnosis of Blomstrand chondrodysplasia, enabling informed reproductive choices such as preimplantation genetic diagnosis, prenatal testing in future pregnancies, and early neonatal planning with a multidisciplinary medical team.
4. How is the sample collected for this test?
A standard peripheral blood sample (2–5 mL in an EDTA tube) is collected by a certified phlebotomist. For your convenience, we offer VIP mobile phlebotomy at your home or hotel across the UAE, with temperature-controlled cold-chain transport to the laboratory.
5. How long does it take to get results?
The turnaround time is 3–4 weeks from sample receipt. This duration ensures meticulous sequencing, bioinformatic analysis, and clinical variant interpretation by our genetics team before final report release.
6. Will my insurance cover this test?
We offer direct billing with most major UAE insurance providers. Please contact us via WhatsApp at +971 54 548 8731 with your policy details for a rapid eligibility verification before booking.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test and all associated services strictly adhere 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. Clinical safety and informed consent procedures are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operations are licensed under DHA Facility License No. 1143 and conducted at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
For appointment scheduling, insurance verification, or clinical inquiries, contact us on +971 54 548 8731 (WhatsApp). Corporate Lab Branding: DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | PTH1R Gene Sequencing (Blomstrand Chondrodysplasia) – NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral blood (EDTA tube) or extracted genomic DNA. VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding exons and conserved splice sites |
| ICD-10-CM Code | Q77.8 (Other osteochondrodysplasias with defects of growth of tubular bones and spine) |
| LOINC Code | 47619-6 (PTH1R gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab Branding: DNA Labs UAE. |
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