Test Price
2,800 AED✅ Home Collection Available
GUCY2C Gene Sequencing for Meconium Ileus Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Core Performance Indicators:
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- 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, supported by DHA-licensed geneticists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test screens the entire coding region of the GUCY2C gene to detect pathogenic variants responsible for meconium ileus (without cystic fibrosis) and familial diarrhea. The assay utilizes the Illumina NovaSeq platform with a comprehensive bioinformatics pipeline achieving 100X average coverage depth for single nucleotide variants and small indels.
| Feature | Our GUCY2C NGS Test | Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | NGS (Illumina NovaSeq) with full bioinformatic pipeline | Sanger Sequencing (limited to known hotspots) |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Variant Detection | Full gene coverage (exons, splice sites, CNV) | Targeted exons only |
Physician Insight & Safety Protocols
From Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403:
The clinical interpretation of GUCY2C variants requires careful pedigree assessment and complete penetrance evaluation. A positive sequencing result indicates a molecular diagnosis but must be correlated with neonatal clinical presentation including abdominal imaging and stool passage history. Many GUCY2C pathogenic variants show variable expressivity, and multidisciplinary consultation with pediatric gastroenterology and genetic counseling is essential before any surgical intervention is considered.
Advisory Pre-Test Guidance
Important Clinical Advisory
Do not discontinue prescribed medication or alter dosages without consulting your doctor. This genetic test does not replace emergency neonatal care. Any suspicion of intestinal perforation, bilious vomiting, or failure to pass meconium within 48 hours of birth warrants immediate emergency evaluation before laboratory scheduling proceeds.
Exclusion Criteria & Emergency Red Flags
- Do not proceed with elective blood draw if infant shows signs of acute intestinal perforation or hemodynamic instability.
- Neonatal bilious vomiting, abdominal distension, or failure to pass meconium within 48 hours of birth constitute a surgical emergency and override test scheduling.
- Sample rejection if not collected in EDTA tube (whole blood) or FTA card is improperly dried.
Patient FAQ & Clinical Guidance
1. How accurate is the GUCY2C NGS test in detecting meconium ileus–causing mutations?
This test achieves greater than 99.9% analytical sensitivity and specificity for single nucleotide variants and small indels by using 100X average coverage depth. It is validated against reference standards from the UAE National Genetic Database and international genomic reference materials.
2. Can I use a dried blood spot on an FTA card for an infant?
One drop of whole blood on a properly dried FTA card is accepted and offers identical diagnostic yield, making it ideal for neonatal collections with minimal discomfort. The sample must be air-dried completely before placement in the provided collection envelope to prevent degradation.
3. Is genetic counseling mandatory before the test?
UAE regulations under Federal Decree-Law No. 4 of 2016 on Medical Liability mandate that pre-test genetic counseling be conducted to draw a three-generation pedigree, discuss variant penetrance, and explain implications for family planning. Our DHA-licensed genetic counselor provides this session at no additional cost.
UAE Regulatory & Data Privacy Adherence
This diagnostic service 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. All genetic data is encrypted, stored on UAE-based servers, and accessible only to the requesting physician and the patient. No genetic information is shared with third parties without explicit written consent as required under Article 7 of PDPL. This facility adheres to the DHA Data Protection Regulations for Health Information and maintains ISO 27001 information security management standards.
Clinical & Logistical Metadata
| Test Name | GUCY2C Gene Sequencing for Meconium Ileus Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA Tube) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina NovaSeq Platform |
| ICD-10-CM Code | P76.1 – Meconium ileus without cystic fibrosis |
| LOINC Code | 94219-4 – Gene mutations identified in Specimen by Sequencing |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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