Test Price
2,800 AED✅ Home Collection Available
EFTUD2 Gene Mandibulofacial Dysostosis With Microcephaly Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This advanced genetic test utilizes Next-Generation Sequencing (NGS) to perform a comprehensive analysis of the EFTUD2 gene associated with Mandibulofacial Dysostosis with Microcephaly (MFDM). The assay is performed in an accredited laboratory under DHA supervision, delivering diagnostic sensitivity exceeding 99.9% via internationally validated bioinformatics processing. The service includes pre-test and post-test genetic counseling, home sample collection through a certified mobile nursing team operating a controlled cold-chain system, telephonic clinical guidance upon result delivery, and direct health insurance verification via WhatsApp.
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing
Premium Logistics
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily from 8 AM to 11 PM
Clinical Guidance
Telephonic Post-Test Clinical Guidance for Result Interpretation
Insurance Verification
Direct Billing Verification via WhatsApp: +971 54 548 8731
Test Overview & Methodology
The EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly Genetic Test is a definitive molecular diagnostic tool that screens the entire coding region of the EFTUD2 gene (located on chromosome 17q21.31) using Next-Generation Sequencing to identify pathogenic variants responsible for Mandibulofacial Dysostosis with Microcephaly (MFDM, OMIM: 610536). This autosomal dominant disorder arises primarily from de novo heterozygous loss-of-function mutations in EFTUD2, which encodes a core component of the U5 small nuclear ribonucleoprotein (snRNP) spliceosome complex. Clinical indications for testing include microcephaly, malar hypoplasia, micrognathia, external ear anomalies, conductive hearing loss, developmental delay, and characteristic craniofacial dysmorphism. Confirmatory genetic diagnosis enables precise prognostic counseling, targeted multidisciplinary intervention, and informed family planning.
| Parameter | Our Test (NGS – EFTUD2 Full Gene) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision / Coverage | Full coding region + splice sites; detects SNVs, indels, and copy number variants (CNVs) | Limited to targeted exon-by-exon analysis; may miss deep intronic or large CNVs |
| Methodology | Next-Generation Sequencing (NGS) with ≥100× mean read depth; validated via orthogonal confirmation | Bidirectional Sanger sequencing; lower throughput, higher per-exon cost |
| Turnaround Time | 3 to 4 Weeks (comprehensive report with clinical annotation) | 4 to 8 Weeks (depending on number of exons sequenced) |
| Clinical Utility | Gold standard for MFDM diagnosis; compatible with ACMG variant classification guidelines | Adequate for familial variant testing only when the mutation is already known |
| Price (UAE) | 2800 AED (all-inclusive) | ~3500–4500 AED (variable per exon) |
Comparison based on UAE market standards. Prices are indicative and subject to insurance coverage verification.
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh (DHA Registration ID: 9294403, Consultant Medical Genetics) states:
A confirmed pathogenic variant in EFTUD2 provides families with a definitive molecular explanation for what can otherwise become a prolonged diagnostic journey. This test establishes a precise diagnosis but must be integrated with the complete clinical picture. Genetic counseling is a mandatory component of the diagnostic pathway, not an optional add-on. I encourage every family to view the result as the foundation for a personalized management strategy rather than a final answer.
Patients and their caregivers should work closely with a clinical geneticist and a multidisciplinary team to address the full spectrum of craniofacial, neurological, and developmental needs associated with this condition.
Critical Medication Advisory
⚠ Important Medication Notice
Do not discontinue, adjust, or initiate any prescribed medication, including antiepileptic drugs, neurotropic agents, or hormonal therapies, without consulting your treating physician. Genetic test results provide diagnostic clarity and prognostic insight but do not independently dictate acute pharmacological management. Abrupt medication changes in patients with MFDM-associated neurological manifestations may precipitate adverse events including breakthrough seizures or status epilepticus.
Patient Safety: Exclusion Criteria & Emergency Red Flags
Pre-Test Exclusion Criteria
- Recent blood transfusion or hematopoietic stem cell transplant (within 4 weeks) — may cause donor DNA contamination
- Active systemic infection with high-grade fever — may compromise sample integrity during cold-chain transport
- Inability to provide informed consent for the patient or legal guardian for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability
- Known maternal cell contamination risk in prenatal samples — amniocyte or CVS culture verification required beforehand
Emergency Red Flags — Seek Immediate Medical Attention
- New-onset seizures, prolonged febrile convulsions, or status epilepticus
- Acute respiratory distress or apnea episodes (particularly in infants with micrognathia and glossoptosis)
- Severe feeding difficulties with failure to thrive or aspiration pneumonia
- Sudden developmental regression or loss of previously acquired motor or language milestones
- Signs of increased intracranial pressure (persistent vomiting, lethargy, bulging fontanelle in infants)
Patient FAQ & Clinical Guidance
1. What does the EFTUD2 Genetic Test actually detect, and how accurate is it for confirming Mandibulofacial Dysostosis with Microcephaly?
This NGS-based test achieves greater than 99.9% analytical sensitivity by sequencing the entire EFTUD2 coding region to definitively detect pathogenic single nucleotide variants, small insertions and deletions, and copy number alterations driving MFDM syndrome. The assay interrogates all 28 exons of the EFTUD2 gene with deep coverage (≥100× mean read depth), employing a clinically validated bioinformatics pipeline aligned with ACMG/AMP variant interpretation standards. Sensitivity for point mutations exceeds 99.9%, while large deletion/duplication detection sensitivity is approximately 97% depending on size and genomic context. A negative result significantly reduces but does not absolutely exclude the possibility of MFDM, as deep intronic variants or mosaic mutations below the detection threshold may rarely occur. Confirmatory clinical correlation with a DHA-licensed clinical geneticist is recommended for all results.
2. How should I prepare for the test, and what sample types are accepted for the EFTUD2 gene analysis?
No fasting or special preparation is required; our laboratory accepts whole blood collected in EDTA tubes, extracted DNA samples, or a single drop of blood on an FTA card for flexible home collection convenience. The preferred sample is 3–5 mL of peripheral whole blood collected in a lavender-top (K2EDTA) tube, which yields high-quality genomic DNA suitable for genetic testing regulations. Home collection is performed by our certified mobile nursing team using a temperature-controlled cold-chain system available daily from 8 AM to 11 PM.
3. What happens after I receive my EFTUD2 test results, and is my genetic data protected under UAE law?
Following result delivery, every patient receives a complimentary telephonic post-test clinical guidance session with a qualified genetic counselor who explains variant interpretation, inheritance implications, and actionable next steps for your personalized care plan. All genetic data is processed, stored, and anonymized 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, which mandate explicit informed consent for genetic testing, restrict secondary use of genetic information, and prohibit genetic discrimination in insurance and employment. Your raw sequencing data (FASTQ and VCF files) is retained securely for 10 years on encrypted servers physically located within UAE data centers. Results are released exclusively to the ordering physician and the patient or legal guardian, with no third-party access permitted without a formal judicial order. For minors, Federal Decree-Law No. 4 of 2016 on Medical Liability requires dual parental or legal guardian authorization prior to any predictive or diagnostic genetic testing.
UAE Regulatory & Data Privacy Adherence
All genetic testing operations, data handling, and patient communication protocols at DNA Labs UAE adhere to the following UAE federal legislative frameworks: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the collection, processing, and storage of genetic and personal data; Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields regulating telemedicine, digital health records, and health informatics systems; and Federal Decree-Law No. 4 of 2016 on Medical Liability covering clinical safety standards, informed consent requirements, and medical professional accountability. DNA Labs UAE is DHA-licensed (Facility No. 1143) and ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring compliance with international quality management standards. Patients retain full rights to access their genetic data, request data portability, and withdraw consent for secondary data processing at any time. For data privacy inquiries, patients may contact the facility directly via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED (all-inclusive, no hidden fees) |
| Turnaround Time | 3 to 4 weeks from sample receipt at laboratory |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in K2EDTA tube), extracted genomic DNA, or FTA card blood 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 ≥100× mean read depth across all coding exons and intron-exon boundaries, plus orthogonal confirmation of all clinically significant variants via Sanger sequencing |
| ICD-10-CM Code | Q75.4 |
| LOINC Code | 92734-7 |
| DHA Facility License & Laboratory Address Invariants | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
Last Clinically Reviewed: January 2026 | Reviewing Clinician: Ms. Lina Osama Zaki Quteineh, DHA 9294403 | Next Scheduled Review: July 2026 | This page is for informational purposes and does not constitute medical advice. Always consult a DHA-licensed healthcare professional for personalized clinical guidance.
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