Test Price
2,800 AED✅ Home Collection Available
GFI1 Gene Severe Congenital Neutropenia Type 2 (Autosomal Dominant) Genetic Test in UAE
Executive Summary & Core Metrics
Summary of Key Test Performance Indicators
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing (Illumina® Platform).
- Premium Logistics: Hospital-Grade Home Collection with ISO Certified Cold-Chain and VIP Mobile Phlebotomy (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for comprehensive result interpretation and management planning.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test provides comprehensive analysis of the GFI1 gene to diagnose Severe Congenital Neutropenia Type 2 (SCN2), an autosomal dominant disorder. Accurate molecular diagnosis is critical for initiating appropriate surveillance, infection prophylaxis, and targeted therapies such as G-CSF, as well as for evaluating family members and planning haematopoietic stem cell transplantation.
| Feature | Our Test (NGS) | Closest Alternative (Single-Gene Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full gene coverage including deep intronic and regulatory regions, capable of detecting large deletions/duplications. | ~95% sensitivity; may miss deep intronic variants and large structural rearrangements. |
| Method | Next-Generation Sequencing (Illumina® Platform, 100x depth) with custom bioinformatics pipeline. | Capillary electrophoresis Sanger sequencing; limited to targeted exon analysis. |
| Speed | 3 to 4 weeks | 6 to 8 weeks |
| Clinical Value | Concurrent analysis of all coding, non-coding, and regulatory regions in a single assay. | Sequential analysis; negative result for known mutations requires reflex to more comprehensive methods, delaying diagnosis. |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasise the importance of definitive molecular diagnosis in managing severe congenital neutropenia. This comprehensive NGS analysis of the GFI1 gene provides the clarity needed for tailored surveillance and targeted therapeutic interventions, including G-CSF therapy and bone marrow transplantation planning. It is crucial to remember that genetic results carry profound implications for the entire family, and pre- and post-test counselling with a certified genetic counsellor is paramount.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety & Precautions
⚠️ Medication Safety Notice:
Do not discontinue, alter, or adjust any prescribed medications (including G-CSF, antibiotics, or immunomodulators) without explicit consultation with your managing physician. Abrupt changes in therapy can precipitate severe infections, neutropenic fever, or other life-threatening complications.
Patient Safety & Exclusion Criteria
- Mandatory Pre-requisite: A clinical history review and pre-test genetic counselling session with a certified genetic counsellor are compulsory. The counselling must include drawing a detailed pedigree chart of affected and unaffected family members to establish inheritance patterns.
- Sample Requirements: Whole blood in EDTA (3-5 mL), Extracted genomic DNA (≥2 μg, ≥50 ng/μL), or a Dried Blood Spot on a Whatman FTA card. Haemolysed, clotted, grossly lipemic, or improperly stored samples will be rejected.
- Minors: Genetic testing for asymptomatic minors must strictly adhere to the provisions of Federal Decree-Law No. 4 of 2016 on Medical Liability and require documented informed consent from both legal guardians or authorised custodians.
- Emergency Red Flags: If the patient (especially a child) experiences a fever ≥38.3°C, new oral ulcers, severe fatigue, bleeding tendencies, or any signs of systemic infection, do not wait for test results—seek immediate emergency medical care. Neutropenic fever constitutes a medical emergency requiring prompt intervention.
Patient FAQ & Clinical Guidance
1. What is the GFI1 gene test and who should consider it?
This GFI1 genetic test uses advanced NGS to identify pathogenic mutations causing Severe Congenital Neutropenia Type 2, enabling precise diagnosis and guided management. It is recommended for infants, children, or adults presenting with recurrent, life-threatening infections, unexplained persistent neutropenia, or a documented family history suggestive of congenital neutropenia. Individuals with chronic neutropenia undergoing evaluation for bone marrow failure syndromes may also benefit significantly from this comprehensive genetic analysis.
2. How is the sample collected and what is the turnaround time?
A standard peripheral whole blood sample is collected by our VIP Mobile Phlebotomy service, which operates daily from 8 AM to 11 PM. The sample is transported under strict temperature-controlled cold-chain protocols directly to our ISO accredited laboratory. Alternatively, extracted DNA or a dried blood spot can be submitted. Results from the NGS analysis are typically available within 3 to 4 weeks from the date of sample receipt. An adult must be present during the home collection to provide consent and receive pre-test counselling instructions.
3. What do positive or negative results mean for my child’s health?
A positive GFI1 result confirms a molecular diagnosis of Severe Congenital Neutropenia Type 2, guiding lifelong monitoring, G-CSF therapy initiation, infection prophylaxis, and surveillance for myelodysplasia or acute myeloid leukaemia. A negative result significantly reduces the likelihood of GFI1 being the underlying cause, but does not eliminate the possibility of other genetic aetiologies for neutropenia. Further investigation of other genes in the congenital neutropenia panel (e.g., ELANE, HAX1, WAS) may be warranted based on clinical indicators. All results are correlated with clinical findings, family history, and post-test genetic counselling.
UAE Regulatory & Data Privacy Adherence
Compliance Framework & Accreditation
- Testing and data handling strictly performed in accordance 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 safety and consent protocols rigorously comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified Quality Management System ensuring international standards of laboratory excellence.
- Licensed and regulated by the Dubai Health Authority (DHA) under Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | GFI1 Gene Severe Congenital Neutropenia Type 2 (Autosomal Dominant) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), Extracted DNA (≥2 μg), or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (Illumina® Platform, 100x depth, full gene coverage) |
| ICD-10-CM Code | D70.0 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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