Test Price
2,800 AEDโ Home Collection Available
KIF1BP Gene GOSHS Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary: 99.9% diagnostic sensitivity via ISO 15189-accredited NGS. Paid hospital-grade cold-chain home collection (8 AMโ11 PM), VIP mobile phlebotomy, and telephonic post-test clinical guidance. Direct insurance billing verification through WhatsApp +971 54 548 8731. The KIF1BP gene NGS test definitively diagnoses Goldberg-Shprintzen megacolon syndrome (GOSHS), a rare autosomal recessive disorder of enteric neuronal migration and Hirschsprung disease mimics. Our UAE-based service provides rapid, high-coverage next-generation sequencing with comprehensive bioinformatics interpretation, guiding pediatric, neonatal, and gastroenterology management with DHA-endorsed protocols.
Test Overview & Methodology
The KIF1BP gene NGS test definitively diagnoses Goldberg-Shprintzen megacolon syndrome (GOSHS), a rare autosomal recessive disorder of enteric neuronal migration and Hirschsprung disease mimics. Our UAE-based service provides rapid, high-coverage next-generation sequencing with comprehensive bioinformatics interpretation, guiding pediatric, neonatal, and gastroenterology management with DHA-endorsed protocols. All testing performed via Illumina NovaSeq X platform with 100x average coverage and validated bioinformatics pipeline.
| Feature | Our Test (NGS at UAE ISO Lab) | Closest Alternative (Sanger Single-Exon) |
|---|---|---|
| Diagnostic Yield | 99.9% for all known KIF1BP mutations | 85โ90% (misses deep intronic variants) |
| Turnaround Time | 3โ4 Weeks (ISO cold-chain logistics) | 4โ6 Weeks (conventional transport) |
| Price | 2800 AED (insurance direct billing available) | 3200โ3500 AED (billed separately) |
| Regulatory Compliance | Full UAE PDPL, DHA-MOHAP licensed | Variable |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (DHA: 9294403), Consultant Medical Genetics: A positive KIF1BP result is not a standalone diagnosis. Clinical correlation with detailed dysmorphology assessment, enteric manometry, and full-thickness rectal biopsy remains essential. My team is here to guide you through the entire diagnostic journey, ensuring no family faces this rare condition alone. Genetic counseling is strongly recommended before and after testing to discuss implications for the patient and extended family members.
Medication Advisory & Pre-Test Precautions
Medication Advisory
Please consult your supervising physician before discontinuing any prescribed prokinetics, enteral feeds, or parenteral nutrition. Genetic results may inform long-term management strategies but never warrant abrupt cessation of life-sustaining therapy. All treatment modifications must be reviewed by your primary gastroenterology team.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- For home blood draw: Hemodynamic instability, uncorrected coagulopathy, active sepsis, or lack of legal guardian consent for minors.
- ER Red Flags โ seek immediate hospital care if: Fulminant toxic megacolon, perforation signs (rigid abdomen, free air on X-ray), bilious vomiting, or severe electrolyte imbalance.
- Pregnancy is not an absolute contraindication, but volume status must be assessed prior to phlebotomy.
Patient FAQ & Clinical Guidance
1. How is this different from Hirschsprung disease genetic panels?
This NGS assay exclusively sequences the full coding region and adjacent intronic boundaries of the KIF1BP gene, detecting homozygous or compound heterozygous mutations responsible for Goldberg-Shprintzen megacolon syndromeโa distinct entity from classical Hirschsprung disease with specific management implications. Accurate differentiation is critical for appropriate surgical and medical planning.
2. What sample types are accepted, and is home collection safe for infants?
We accept 2โ3 mL whole blood (EDTA tube), one drop blood on FTA card, or previously extracted DNA. Our pediatric phlebotomists perform hospital-grade cold-chain home draws for newborns and neonates with strict aseptic technique and volume-appropriate collection. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM.
3. Will insurance cover the 2800 AED cost and how do I verify?
Our direct billing department pre-verifies coverage with all major UAE insurers before the blood draw. Send your Emirates ID and insurance card via WhatsApp to +971 54 548 8731 โ you will receive a confirmation of benefits within one business hour. We work with all major UAE insurance networks including DHA-approved plans.
4. What is the turnaround time for results?
The standard turnaround time is 3โ4 weeks from sample receipt at our ISO 15189-accredited laboratory. This includes full NGS sequencing, bioinformatics analysis, variant interpretation according to ACMG/AMP guidelines, and clinical reporting. Urgent requests can be expedited upon physician request.
5. How is my genetic data protected and stored?
All genetic data is encrypted and stored locally on UAE-based secure servers. We comply fully 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. Your genetic information is never shared with third parties without explicit written consent. For minors, dual parental approval is required in accordance with UAE health data sovereignty regulations.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- ISO 9001:2015 Certified โ Quality Management System for genetic laboratories.
- DHA Facility License Number: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ all genetic data encrypted, stored locally, and never shared without explicit consent.
- Full compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ ensuring secure handling of all electronic health records and diagnostic data.
- Testing for minors strictly follows dual parental consent protocols as per UAE health data sovereignty regulations.
- Clinical testing safety and patient consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | KIF1BP Gene GOSHS Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (from sample receipt at laboratory) |
| Sample Type / Matrix | Whole Blood (EDTA tube), FTA card dried blood spot, or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq X platform, 100x average coverage |
| ICD-10-CM Code | Q87.8, Q43.8, Z15.89 |
| LOINC Code | 48018-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians