Test Price
2,800 AED✅ Home Collection Available
GPC6 Gene Omodysplasia Type 1 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary: This test leverages Next-Generation Sequencing (NGS) to screen the complete coding region of the GPC6 gene for pathogenic variants associated with omodysplasia type 1, a rare autosomal recessive skeletal dysplasia. With 99.9% analytical sensitivity under ISO 15189 compliant processes, results are delivered within 3–4 weeks. Premium logistics include VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Post-test telephonic clinical guidance with interpretation by a DHA-licensed consultant medical geneticist is included. Price: 2,800 AED. Direct insurance billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GPC6 Gene Omodysplasia Type 1 Genetic Test is a comprehensive diagnostic assay that interrogates the entire coding region and conserved splice sites of the GPC6 gene using next-generation sequencing. This test is indicated for individuals presenting with clinical features of omodysplasia—short stature, rhizomelic limb shortening, and characteristic facial dysmorphism—and for carrier screening in consanguineous or at-risk families. Our NGS platform achieves deep coverage uniformity across all exons, enabling detection of single-nucleotide variants, small insertions and deletions, and copy-number alterations with high confidence.
| Feature | Our Test (GPC6 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity, full gene coverage including deep intronic boundaries | ~85% sensitivity, limited to known hotspot exons |
| Methodology | Next-Generation Sequencing (NGS) with paired-end 150 bp reads | Sanger Sequencing (single‑amplicon capillary electrophoresis) |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks |
| Sample Collection | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card | Blood only (standard venipuncture) |
| Price | 2,800 AED | Typically 2,200 – 2,500 AED (limited scope) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“A molecular diagnosis of omodysplasia type 1 through GPC6 sequencing provides a definitive genetic explanation for the skeletal phenotype in many affected individuals. However, a negative NGS result does not eliminate the possibility of a deep intronic or structural rearrangement that evades standard capture-based assays; therefore, ongoing radiological surveillance and periodic re-evaluation of clinical findings remain essential. I counsel families to view the result as one component of a comprehensive diagnostic workup, not as a standalone verdict. Pre-test and post-test genetic counselling are integral to responsible use of this technology.”
Medication Advisory
Do not discontinue any prescribed medication, vitamin, or therapeutic support without consulting your managing physician. Genetic test results must always be interpreted in the context of your complete health profile, current clinical status, and family history. This test is not intended to guide acute medication changes.
Exclusion Criteria & Emergency Red Flags
- Acute febrile illness or active infection at the time of sample collection – reschedule until full recovery.
- Lack of informed consent or absence of pre‑test genetic counselling session.
- Any clinical emergency: severe respiratory distress, evolving skeletal deformity causing airway compromise, or sudden neurological deterioration – seek immediate hospital care. This test is not intended for acute diagnostic use.
Patient FAQ & Clinical Guidance
1. How accurate is the GPC6 NGS test for confirming omodysplasia type 1?
Our NGS assay delivers 99.9% analytical sensitivity for detecting single‑nucleotide variants, small insertions/deletions, and copy‑number changes across all coding exons of GPC6. However, a negative result does not fully exclude the disease if a pathogenic variant lies in a deep intronic or regulatory region not covered by the capture design. Clinical correlation with radiographic findings and physical examination remains mandatory.
2. What sample types are accepted, and is home collection available?
We accept whole blood (EDTA), extracted DNA, or a single dried blood spot on an FTA card. All samples are collected by our ISO‑certified mobile phlebotomy team at your residence between 8 AM and 11 PM. This service includes temperature-controlled cold-chain transport to ensure specimen integrity from collection through laboratory processing.
3. Is genetic counselling required before and after this test?
Yes, a pre‑test genetic counselling session is mandatory to construct a detailed pedigree of affected family members, discuss possible outcomes, obtain informed consent, and address psychological implications. Post‑test telephonic guidance is provided at no additional cost, connecting you with a DHA‑licensed consultant medical geneticist to interpret results and plan next steps.
4. How long does it take to receive results, and how will they be delivered?
The standard turnaround time is 3 to 4 weeks from sample receipt in the laboratory. Results are delivered via a secure digital portal with a detailed clinical report that includes variant classification according to ACMG/AMP guidelines. A confidential telephonic consultation with the referring physician or the patient is scheduled within 48 hours of report release.
5. What does the price include, and is insurance accepted?
The price of 2,800 AED includes the full NGS sequencing and analysis, pre-test genetic counselling, post-test telephonic interpretation, and premium home phlebotomy with cold-chain logistics. Direct insurance billing verification can be arranged via WhatsApp at +971 54 548 8731. Please check with your insurer regarding coverage for genetic testing.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This service operates in full compliance with 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. All genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes with explicit patient consent. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operations are ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) and DHA-licensed for genetic diagnostics.
Clinical & Logistical Metadata
| Test Name | GPC6 Gene Omodysplasia Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Paired-End 150 bp, Deep Coverage |
| ICD-10-CM Code | Q77.8 |
| LOINC Code | 81263-1 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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