Test Price
2,800 AED✅ Home Collection Available
BMPR1B Gene Sequencing (NGS) Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Next-Generation Sequencing (NGS) processing.
- Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection (available daily from 8 AM to 11 PM).
- Post-Test Clinical Guidance: Telephonic consultation with a DHA-licensed Consultant Medical Geneticist.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
- Regulatory Compliance: Strict adherence 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.
Test Overview & Methodology
This test analyses the entire coding region of the BMPR1B gene using Next-Generation Sequencing (NGS) to confirm acromesomelic chondrodysplasia with genital anomalies (AMCD2B), a rare skeletal dysplasia. In the UAE, the result empowers precise clinical management, genetic counselling, and informed reproductive decisions for affected families.
| Feature | Our Test (BMPR1B NGS) | Whole Exome Sequencing |
|---|---|---|
| Precision | >99.9% coverage of BMPR1B coding region | Broad but lower depth per gene |
| Method | NGS (HiSeq) with full bioinformatic analysis | NGS of all ~20,000 genes |
| Turnaround | 3‑4 Weeks | 8‑12 Weeks |
| Clinical Focus | Targeted confirmation of AMCD2B | Incidental findings unrelated to phenotype |
Physician Insight & Safety Protocols
"The BMPR1B gene sequencing test provides definitive molecular confirmation of acromesomelic dysplasia type 2B. It is essential to integrate the genetic finding with clinical and radiological evaluation. Families in the UAE are strongly encouraged to pursue post-test genetic counselling to fully understand the inheritance pattern and reproductive options."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory & Precautions
⚠️ Medication Warning:
This test is for diagnostic confirmation only and does not replace ongoing clinical care. Do not discontinue any prescribed medications without consulting your physician.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Not suitable for patients who have undergone a bone marrow transplant within the last 6 weeks due to donor DNA interference. For minors, informed consent from a legal guardian is mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: If the patient experiences severe respiratory distress, acute skeletal pain, or signs of hormonal crisis (e.g., hypoglycaemia, adrenal insufficiency) prior to or during the test process, immediately call emergency services (998) and defer home collection.
Patient FAQ & Clinical Guidance
1. What is the BMPR1B gene test used for?
The BMPR1B NGS test diagnoses acromesomelic chondrodysplasia with genital anomalies (AMCD2B) by identifying pathogenic variants in the BMPR1B gene. This disorder is characterised by short stature, hand and foot anomalies, and often ambiguous genitalia. The test provides definitive molecular confirmation to guide clinical management and family planning.
2. How is the sample collected?
A simple blood draw (whole blood in EDTA) or buccal swab is performed by a DHA-licensed phlebotomist during a home visit. All samples are transported under temperature-controlled cold-chain logistics to the laboratory. The process ensures minimal discomfort and strict adherence to safety protocols.
3. What is the turnaround time and cost?
Results are available within 3 to 4 weeks at a price of 2,800 AED. This includes post-test genetic counselling support by a consultant medical geneticist and full compliance with UAE insurance billing procedures.
UAE Regulatory & Data Privacy Adherence
This test is performed at DNA Labs UAE (DHA Facility License No. 1143) and complies with the personal data protection requirements mandated by Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is processed and stored in compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient confidentiality and data security are maintained at the highest standards.
Clinical & Logistical Metadata
| Test Name | BMPR1B Gene Sequencing (NGS) – AMCD Diagnosis |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab |
| Methodology Used | Next-Generation Sequencing (NGS) – HiSeq Platform |
| ICD-10-CM Code | Q77.8 (Other osteochondrodysplasias) |
| LOINC Code | 82394-1 (BMPR1B gene targeted mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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