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Test Price

2,800 AED

✅ Home Collection Available

DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

Executive Summary

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next Generation Sequencing.

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 in result interpretation.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This DHODH gene analysis utilises Next Generation Sequencing (NGS) on the Illumina NovaSeq platform to detect pathogenic mutations causing postaxial acrofacial dysostosis (Miller syndrome), a rare autosomal recessive disorder marked by facial and limb anomalies. The assay covers the full coding region and flanking intronic boundaries, ensuring high diagnostic yield for clinically suspected cases.

Test Parameter Our Test (NGS) Closest Alternative (Sanger Sequencing)
Precision / Coverage Full coding region ± flanking introns Limited to single‑exon analysis
Method Next Generation Sequencing (Illumina NovaSeq) Sanger (dideoxy) sequencing
Turnaround Time 3 – 4 weeks 5 – 7 weeks

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics specialist, I emphasise that a positive DHODH result is a pivotal diagnostic data point, yet it must be interpreted alongside comprehensive dysmorphology assessment and multi-generational pedigree analysis. This test is not a standalone verdict — our team remains committed to supporting families through every stage of result interpretation and care planning.”

— Lina Osama Zaki Quteineh (DHA Registration ID: 9294403)

Advisory Notice

Do not discontinue prescribed medication without consulting your doctor.

Exclusion Criteria & ER Red Flags

  • Uncontrolled bleeding disorder that contraindicates venipuncture.
  • Inability to provide informed consent; for minors, legally authorised representative consent is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Recent allogeneic blood transfusion (within 4 weeks) may interfere with germline genetic analysis – a pre‑test counselling note is recommended.
  • If you experience acute respiratory distress, uncontrolled seizures, or severe allergic reaction, seek emergency medical attention immediately; this genetic test is not a substitute for urgent care.

Patient FAQ & Clinical Guidance

1. What is the purpose of the DHODH gene NGS test?

The DHODH gene test identifies pathogenic variants causing postaxial acrofacial dysostosis (Miller syndrome) to confirm clinical diagnosis, guide management, and inform family planning decisions.

2. How is the sample collected and what is the turnaround time?

A DHA‑licensed phlebotomist draws a peripheral blood sample or collects a one‑drop FTA card at your home via our VIP Mobile Phlebotomy service. Results are available within 3–4 weeks.

3. Is this test covered by health insurance in the UAE?

Most UAE insurance plans cover diagnostic genetic testing when medically indicated; we verify your coverage directly via WhatsApp at +971 54 548 8731 before proceeding.

UAE Regulatory & Data Privacy Adherence

All genetic data processing and storage comply 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. Patient consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information is encrypted, access‑controlled, and used solely for diagnostic purposes.

Clinical & Logistical Metadata

Test Name DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test
Price (AED) 2,800
Turnaround Time 3–4 weeks
Sample Type / Matrix Peripheral Whole Blood or FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily from 8 AM to 11 PM
Methodology Used Next Generation Sequencing (NGS) – Illumina NovaSeq
ICD-10-CM Code Q87.0
LOINC Code 81260-5
DHA Facility License & Laboratory Address DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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