Test Price
2,800 AED✅ Home Collection Available
CPLANE1 Gene Orofaciodigital Syndrome Type 6 (OFD6) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity achieved via ISO 9001:2015-certified NGS processing with multi-layered bioinformatic validation.
- Premium Logistics: Hospital-Grade Home Collection by DHA-licensed phlebotomists using ISO-certified cold-chain transport, preserving DNA integrity from doorstep to laboratory.
- Clinical Guidance: Complimentary telephonic post-test interpretation with a clinical geneticist to explain results and discuss actionable steps.
- Insurance: Direct Billing Verification — send your insurance card via WhatsApp to +971 54 548 8731 for instant eligibility check.
Test Overview & Methodology
This test screens the entire CPLANE1 gene using Next-Generation Sequencing (NGS) to identify pathogenic variants responsible for Orofaciodigital Syndrome Type 6—a rare inherited disorder affecting the face, oral cavity, and digits. The analysis covers all coding exons and flanking intronic regions, delivering a definitive molecular diagnosis for affected individuals and recurrence risk assessment for families.
| Feature | Our CPLANE1 NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | Full gene coverage with detection of point mutations, small indels, and copy number variations | Only targeted specific known mutations; can miss novel or unexpected variants |
| Methodology | Next-Generation Sequencing (NGS) with up-to-date bioinformatics pipeline | Capillary electrophoresis-based dideoxy sequencing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
"Comprehensive genetic evaluation is the cornerstone of managing rare syndromic disorders. Early molecular confirmation of CPLANE1-related OFD6 equips families with precise recurrence risk data and opens the door to tailored multidisciplinary surveillance. A molecular finding must always be interpreted within the context of detailed clinical assessment and family history to ensure the most accurate and responsible management plan."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Considerations
⚠ Important Medication Disclaimer
This genetic test provides diagnostic information only. Do not alter or discontinue any prescribed therapies, supplements, or interventions without direct consultation with your treating physician. All clinical decisions must be grounded in a complete medical evaluation.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent from legal guardian (for minors required by UAE Child Protection Law), uncooperative minor without sedation clearance, or active infection at venipuncture site.
- Emergency Red Flags: Neonate with respiratory distress, severe craniofacial abnormalities compromising airway, or acute neurological deterioration. If these symptoms manifest, proceed immediately to the nearest emergency department — do not delay for sample collection.
Patient FAQ & Clinical Guidance
1. What is the CPLANE1 Gene Orofaciodigital Syndrome Type 6 Genetic Test?
This DNA sequencing test detects mutations in the CPLANE1 gene responsible for orofaciodigital syndrome type 6. The comprehensive analysis identifies disease-causing variants including single nucleotide changes, small insertions or deletions, and copy number alterations across the entire coding region, delivering a molecular diagnosis when clinical features suggest OFD6.
2. Why is this test important for my child?
Confirming the genetic cause of your child's facial, oral, and digital anomalies enables targeted surveillance and early intervention. It ends the diagnostic odyssey, clarifies recurrence risk for future pregnancies, and connects you with specialized multidisciplinary teams for optimal long-term management.
3. How is the sample collected and what preparation is needed?
A small blood sample is collected by a trained phlebotomist via standard venipuncture. No fasting or special preparation is required. However, a detailed clinical history and genetic counseling session with a pedigree chart are mandatory before testing. VIP Mobile Phlebotomy home collection is available daily from 8 AM to 11 PM with temperature-controlled cold-chain transport.
4. How long does it take to get results?
The standard turnaround time is 3 to 4 weeks from sample receipt in the laboratory. Results are delivered electronically via a secure patient portal and a physical copy is sent to your referring physician. A complimentary telephonic consultation with a clinical geneticist is scheduled upon result release.
5. Will my insurance cover this test?
DNA Labs UAE offers direct billing verification for a wide range of insurance providers. To check your eligibility and coverage details, send a photo of your insurance card via WhatsApp to +971 54 548 8731. Our billing team will respond with a confirmation within one business day.
UAE Regulatory & Data Privacy Adherence
This diagnostic service and its associated data handling practices comply fully with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — ensuring all genetic data is processed lawfully, transparently, and with your explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating the secure digital storage and transmission of electronic health records and genomic information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — governing clinical standards, patient safety, and informed consent requirements for all diagnostic procedures.
All genetic testing is performed under the supervision of a DHA-licensed Consultant Medical Geneticist and adheres to the highest standards of clinical accuracy and patient confidentiality.
Clinical & Logistical Metadata
| Test Name | CPLANE1 Gene Orofaciodigital Syndrome Type 6 (OFD6) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube); also accepted: extracted genomic DNA or FTA card spot. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) with full coding exon and flanking intronic region coverage, bioinformatic analysis for SNVs, indels, and CNVs. |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 101397-8 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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