Test Price
2,800 AED✅ Home Collection Available
OFD1 Gene Oral-Facial-Digital Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA-Licensed Facility
Executive Summary & Core Metrics
This advanced genetic test uses Next-Generation Sequencing (NGS) to comprehensively analyze the OFD1 gene associated with Oral-Facial-Digital Syndrome Type 1. The test is performed in an accredited laboratory under DHA supervision (License No. 1143) with ISO 9001:2015 certification. For standard peripheral whole blood samples, we offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates. Diagnostic sensitivity exceeds 99.9% with integrated post-test genetic counseling.
Diagnostic Sensitivity
ISO-Accredited NGS Processing
Cold-Chain Home Collection
VIP Mobile Phlebotomy Service
Telephonic Clinical Guidance
DHA-Licensed Specialist Consultation
Direct Billing Verification
+971 54 548 8731
Test Overview & Methodology
The OFD1 Gene Genetic Test is a high-resolution diagnostic assay that sequences the entire coding region of the OFD1 gene located on the X chromosome (Xp22.2). It identifies pathogenic variants responsible for Oral-Facial-Digital Syndrome Type 1 — a rare X-linked dominant ciliopathy characterized by malformations of the oral cavity, face, digits, and central nervous system. This test serves neurologists, clinical geneticists, and pediatricians in establishing a molecular diagnosis, guiding clinical management, and enabling informed genetic counseling for affected families across the UAE.
| Parameter | Our OFD1 NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Technology | NGS (Next-Generation Sequencing) – Full Gene Coverage | Sanger Sequencing – Exon-by-Exon Only |
| Detection Rate | >99% Coding Variants incl. Deep Intronic Splice Sites | ~90% – Misses Large Deletions & Mosaicism |
| Turnaround Time | 3–4 Weeks | 6–12 Weeks (Sequential Exon Processing) |
| Sample Types | Whole Blood / Extracted DNA / FTA Card (Dried Blood Spot) | Whole Blood Only (Higher Volume Required) |
| Clinical Reporting | ACMG-Compliant Variant Classification + Genetic Counseling | Basic Variant Call – Limited Interpretation |
| Price (AED) | 2,800 | ~3,500–4,200 |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"The OFD1 gene test provides a definitive molecular diagnosis for families living with the uncertainty of Oral-Facial-Digital Syndrome Type 1. In my practice, I have observed how a confirmed genetic finding alters clinical trajectories — enabling early nephrology surveillance, anticipatory neurological care, and precise reproductive counseling. This test identifies pathogenic variants; however, results must always be correlated with the full clinical phenotype and a three-generation pedigree. No genetic variant should be interpreted in isolation."
Medication Advisory
Do not discontinue prescribed medication — particularly anti-epileptic drugs, neurotropic agents, or any chronic therapy — without consulting your treating physician. This genetic test does not replace ongoing clinical management.
Safety Protocol & Exclusion Criteria
- • Exclusion: Individuals unable to provide informed consent or lacking a legal guardian (as per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- • Exclusion: Inadequate sample integrity — hemolyzed blood, improperly stored FTA cards, or degraded extracted DNA.
- • ER Red Flag: Seek immediate emergency care if the patient experiences new-onset seizures, acute respiratory distress, or signs of raised intracranial pressure (severe headache with vomiting and visual disturbance).
- • ER Red Flag: Infants with suspected OFD1 presenting with feeding difficulties and cyanotic episodes require urgent pediatric assessment.
- • Mandatory: A pre-test genetic counseling session is required to document a three-generation pedigree and ensure informed decision-making.
Patient FAQ & Clinical Guidance
1. What does the OFD1 gene test diagnose, and who should consider it?
The OFD1 Genetic Test is designed to diagnose Oral-Facial-Digital Syndrome Type 1 by detecting pathogenic variants in the OFD1 gene with 99.9% diagnostic sensitivity using NGS technology. It is indicated for individuals presenting with oral frenula and clefting, facial dysmorphism (hypertelorism, facial asymmetry), digital anomalies (brachydactyly, syndactyly, polydactyly), and neurological involvement such as intellectual disability or structural brain malformations. It is also recommended for at-risk female relatives of affected individuals due to the X-linked dominant inheritance pattern with male lethality in most cases.
Pre-test genetic counseling is mandatory to document a three-generation pedigree and ensure informed consent. The test is available as a home collection service via VIP mobile phlebotomy across all UAE emirates.
2. How is the OFD1 genetic test performed and what is the turnaround time?
The test analyzes the complete OFD1 gene coding region using Next-Generation Sequencing technology from a standard whole blood sample (EDTA tube, 3–5 mL), extracted DNA, or an FTA card. A certified phlebotomist performs home collection between 8 AM and 11 PM under ISO-certified cold-chain logistics. The sample undergoes DNA extraction, library preparation, and high-depth NGS sequencing. Variants are classified according to ACMG/AMP guidelines, and results are typically available within 3 to 4 weeks.
No fasting or medication adjustments are required prior to collection. The sample is transported at 2–8°C for blood or stored at room temperature for FTA cards.
3. What happens after I receive my OFD1 genetic test result?
Following receipt of your OFD1 test result, you will receive a complimentary telephonic post-test clinical guidance session with a DHA-licensed specialist (Consultant Medical Genetics). This session interprets the findings in the context of your family pedigree and clinical phenotype, and outlines recommended next steps such as renal ultrasound surveillance, neurological follow-up, or multidisciplinary care coordination. If the result is negative, further investigation via broader genetic testing (e.g., whole exome sequencing) may be discussed.
Genetic counseling for family members is strongly recommended, particularly for female relatives of childbearing age. Direct billing verification and insurance coverage inquiries can be made via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
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 govern the processing and protection of patient data. DNA Labs UAE strictly complies with these regulations to ensure confidentiality, integrity, and security of all genetic and personal information. All test results are transmitted via encrypted channels and accessed only by authorized medical personnel. For more information on data handling practices, please contact our data protection officer.
Clinical & Logistical Metadata
| Test Name | OFD1 Gene Oral-Facial-Digital Syndrome Type 1 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coding Region |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 82939-0 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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