Test Price
2,800 AED✅ Home Collection Available
ROR2 Gene Brachydactyly Type B1 Genetic Test | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
The ROR2 Gene Brachydactyly Type B1 Genetic Test delivers 99.9% diagnostic sensitivity through ISO-accredited next-generation sequencing, targeting pathogenic variants in the ROR2 gene (NM_004560.4) associated with autosomal dominant Brachydactyly Type B1. This comprehensive assay covers all coding exons and splice-site junctions, providing definitive molecular confirmation for clinical diagnosis, familial screening, and reproductive planning. The test is performed at DNA Labs UAE, a DHA-licensed facility (License No. 1143) adhering to UAE federal health regulations.
Test Overview & Methodology
The ROR2 Gene Brachydactyly Type B1 Genetic Test is a high-precision molecular diagnostic assay designed to detect pathogenic single-nucleotide variants (SNVs), small insertions/deletions (indels), and copy-number variations (CNVs) within the ROR2 receptor tyrosine kinase gene locus (9q22.31). Brachydactyly Type B1 (BDB1; OMIM #113000) is characterized by hypoplasia or aplasia of the distal phalanges and nails of digits 2–5, with relative sparing of the thumbs and great toes. This NGS-based test utilizes library preparation with hybrid-capture enrichment followed by sequencing on an Illumina NovaSeq X Plus platform, achieving a mean depth of coverage ≥300× with 100% coverage of targeted regions at ≥20×. Pre-test genetic counseling is required to document clinical history, construct a detailed pedigree, and obtain informed consent.
| Feature | Our NGS Test (ISO Certified) | Sanger Sequencing (Alternative) |
|---|---|---|
| Diagnostic Precision | 99.9% Sensitivity – Full gene coverage including deep intronic regions | ~95% Sensitivity – Exon-by-exon; limited CNV detection |
| Methodology | NGS (Next-Generation Sequencing) – Illumina NovaSeq X Plus, Hybrid-Capture Enrichment | Capillary Electrophoresis Sanger Sequencing – Single-amplicon analysis |
| Turnaround Time | 3 to 4 Weeks (comprehensive report with clinical interpretation) | 6 to 8 Weeks (sequential exon testing; may require reflex to NGS) |
| Regulatory Compliance | DHA/MOHAP Standards | ISO 9001:2015 | CAP/CLIA-aligned | Variable; often lacks UAE-specific regulatory alignment |
Physician Insight & Safety Protocols
"In my clinical genetics practice, I have seen how a confirmed pathogenic ROR2 variant provides families with a definitive molecular explanation for Brachydactyly Type B1, yet the variable expressivity within pedigrees underscores the need for thorough clinical correlation—a positive result must be weighed against the full physical exam and family history. A negative result does not exclude all genetic causes; additional investigations such as chromosomal microarray or whole-exome sequencing may be indicated when suspicion remains high. I advise that this test be integrated into a broader diagnostic pathway that includes detailed dysmorphology assessment and multi-generational pedigree analysis."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory
Do not discontinue any prescribed medication or modify your child's treatment regimen without consulting your treating physician. This genetic test is a diagnostic tool and does not replace ongoing clinical management. All clinical decisions must be made by a qualified healthcare provider.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Inability to obtain informed consent from a legal guardian (mandatory for minors under UAE Federal Law No. 2 of 2019 and Medical Liability Law)
- Inadequate or degraded sample (hemolyzed blood, insufficient DNA yield <50 ng/µL)
- Recent allogeneic bone marrow transplant within 90 days (may confound germline variant calling)
- Active hematologic malignancy with circulating tumor DNA in peripheral blood
Emergency Red Flags — Seek Immediate Medical Attention
- Signs of infection at phlebotomy site: erythema, purulent discharge, or fever >38.5°C
- Prolonged bleeding or hematoma formation >5 cm at venipuncture site
- Acute respiratory distress or cyanosis in infants with suspected syndromic brachydactyly
- Severe allergic reaction (urticaria, angioedema, anaphylaxis) within 2 hours of blood draw
Patient FAQ & Clinical Guidance
1. What is the ROR2 Gene Brachydactyly Type B1 Genetic Test?
This advanced NGS-based genetic test analyzes all coding regions of the ROR2 gene to detect pathogenic variants causing Brachydactyly Type B1, a rare inherited skeletal disorder characterized by shortened or absent distal phalanges and nails predominantly affecting digits 2 through 5. The test uses a small blood sample (3–5 mL in EDTA tube), extracted DNA, or a single drop of blood on an FTA card, and provides a definitive molecular diagnosis within 3 to 4 weeks. Results guide clinical management, inform familial recurrence risk assessment, and support reproductive decision-making for affected families.
2. How is the sample collected and what is the turnaround time?
A certified phlebotomist collects 3–5 mL of whole blood in an EDTA tube via our VIP home collection service operating daily from 8 AM to 11 PM across all UAE emirates, with samples transported under ISO-certified cold-chain conditions at 2–8°C to our Dubai laboratory. Alternatively, patients may submit extracted DNA (minimum 1 µg at ≥50 ng/µL) or a blood spot on an FTA card. The complete analytical workflow requires 3 to 4 weeks. Expedited processing may be available upon request for urgent prenatal or pre-surgical cases.
3. What do the results mean for my child's health and future family planning?
A positive (pathogenic) ROR2 variant confirms the molecular diagnosis of Brachydactyly Type B1 with autosomal dominant inheritance, meaning each child of an affected parent has a 50% risk of inheriting the condition, enabling informed reproductive choices including prenatal testing and preimplantation genetic diagnosis. A negative result significantly reduces but does not eliminate the possibility of an alternative genetic etiology. All results are interpreted by board-certified clinical geneticists and include a complimentary post-test telephonic genetic counseling session to explain findings in the context of your family's specific clinical presentation and pedigree.
UAE Regulatory & Data Privacy Adherence
Legal & Data Protection Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genomic data is encrypted at rest and in transit, stored on UAE-sovereign servers, and processed in full compliance with the UAE Personal Data Protection Law, prohibiting unauthorized third-party access or cross-border data transfer without explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: This laboratory operates under strict compliance with UAE healthcare facility licensing and clinical laboratory regulations, ensuring all genetic testing meets statutory quality and safety benchmarks for digital health data.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Genetic testing of minors requires documented informed consent from a legal guardian, with results disclosed exclusively through a licensed genetic counselor or treating physician in accordance with UAE medical liability standards.
- ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — Validated quality management system encompassing all pre-analytical, analytical, and post-analytical phases.
Clinical & Logistical Metadata
| Test Name | ROR2 Gene Brachydactyly Type B1 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (3–5 mL, EDTA tube) | Extracted DNA (≥1 µg, ≥50 ng/µL) | One Drop Blood on FTA Card. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | NGS (Next-Generation Sequencing) – Illumina NovaSeq X Plus, Hybrid-Capture Enrichment |
| ICD-10-CM Code | Q73.8 |
| LOINC Code | 81321-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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