Test Price
2,800 AED✅ Home Collection Available
ZEB2 Gene Hirschsprung Disease NGS Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Validation: This next‑generation sequencing (NGS) test analyses the entire coding region of the ZEB2 gene to detect pathogenic variants implicated in Hirschsprung disease and related syndromes. The assay delivers a diagnostic sensitivity exceeding 99.9 percent through ISO‑certified processing (ISO 9001:2015).
Home Collection: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection is available daily from 8 AM to 11 PM for standard whole blood, serum, or plasma specimens. For dried blood FTA cards, courier retrieval is arranged.
Clinical Guidance: Complimentary telephonic post‑test clinical interpretation is provided by a DHA‑licensed Consultant Medical Geneticist.
Pricing & Logistics: The standard turnaround time is 3 to 4 weeks from sample receipt. Direct billing verification is available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This comprehensive genetic screening utilises next‑generation sequencing (NGS) to interrogate the full ZEB2 gene coding sequence, detecting point mutations, small insertions and deletions, and copy number variants. The test is indicated for paediatric patients presenting with chronic constipation, abdominal distension, delayed meconium passage, or a family history of Hirschsprung disease or Mowat‑Wilson syndrome. Genomic DNA extracted from whole blood (EDTA), extracted DNA, or dried blood FTA cards undergoes targeted enrichment and high‑depth sequencing to achieve robust coverage of all clinically relevant exons.
| Feature | NGS ZEB2 Gene Test | Standard Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (whole gene coding region) | Targeted single‑exon analysis |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks |
| Diagnostic Sensitivity | >99.9% | ~95% |
| Sample Types | Whole Blood (EDTA), Extracted DNA, Dried Blood FTA Card | Whole Blood (EDTA) only |
Physician Insight & Safety Protocols
“From a clinical genetics perspective, the ZEB2 NGS assay provides definitive molecular confirmation in a significant subset of Hirschsprung disease cases. However, a negative result should not be interpreted as exclusion of the condition, as non‑ZEB2 genetic or multifactorial aetiologies exist. Integrating this genomic data with clinical and radiological assessments is essential for guiding timely surgical planning and offering accurate recurrence risk counselling for the family.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Notice
Do not discontinue or alter any prescribed medication without prior consultation with your treating physician or paediatric surgeon.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Not intended for asymptomatic adults without a relevant family history; pre‑test genetic counselling with a DHA‑licensed genetic counsellor is mandatory.
- Exclusion: Inadequate sample quality (haemolysed blood, low DNA yield) may necessitate a repeat collection.
- Red Flag: Acute onset of bilious vomiting, progressive abdominal distension, or absent bowel sounds in an infant – proceed directly to emergency care; do not wait for genetic results.
- Red Flag: Signs of toxic megacolon (fever, severe tenderness, sepsis) require immediate surgical evaluation.
Patient FAQ & Clinical Guidance
1. What is the ZEB2 Gene Hirschsprung Disease Genetic Test?
This is a comprehensive next‑generation sequencing (NGS) analysis of the ZEB2 gene. It identifies pathogenic mutations responsible for Hirschsprung disease and associated syndromes such as Mowat‑Wilson syndrome. The test is recommended when clinical features – chronic constipation, abdominal distension, delayed meconium passage – suggest a congenital enteric neuropathy. Interpretation is provided by a consultant medical geneticist.
2. Who should consider this test?
Infants and children exhibiting signs of Hirschsprung disease, neonates with delayed passage of meconium (>48 hours), children with unexplained intestinal obstruction, and individuals with a known family history of ZEB2‑related syndromes. A referral from a paediatric gastroenterologist, paediatric surgeon, or clinical geneticist is recommended to ensure medical appropriateness.
3. What do the results mean?
A positive result confirms the presence of a ZEB2 mutation linked to Hirschsprung disease, enabling precise surgical management and cascade testing for at‑risk relatives. A negative result reduces but does not eliminate the likelihood of disease; other genetic or non‑genetic causes should be explored. A consultation with a medical geneticist is provided to discuss implications for the patient and family.
UAE Regulatory & Data Privacy Adherence
- DHA Facility License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
- Clinical Safety & Patient Consent: All procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring informed consent and clinical accountability.
- Data Privacy: The laboratory 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.
- Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), verifying our commitment to quality management in genomic diagnostics.
Clinical & Logistical Metadata
| Test Name | ZEB2 Gene Hirschsprung Disease NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, Dried Blood FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) of ZEB2 whole gene coding region |
| ICD-10-CM Code | Q43.1 |
| LOINC Code | 44397-5 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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