Test Price
2,800 AEDโ Home Collection Available
FANCI Gene Fanconi Anemia Type I Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary: This definitive genetic test offers 99.9% diagnostic sensitivity for Fanconi anemia type I, utilizing Next Generation Sequencing (NGS) with full FANCI gene coverage. A genetic counselling session is included pre- and post-test to ensure informed clinical decision-making.
Test Overview & Methodology
FANCI Gene Fanconi Anemia Type I Genetic Test โ this state-of-the-art assay sequences the entire coding region of the FANCI gene to detect pathogenic variants linked to Fanconi anemia type I. The test is designed for patients presenting with bone marrow failure, congenital anomalies, or carrier screening within families. Results empower precise clinical management, haematopoietic stem cell transplant decisions, and reproductive counselling.
| Aspect | Our Test (DHA-Approved) | Closest Alternative |
|---|---|---|
| Technology | NGS (Next Generation Sequencing) with full gene coverage | Sanger sequencing (limited to single exon analysis) |
| Variant Resolution | Single nucleotide variants, small indels, copy number variants (via MLPA backup) | Only point mutations in selected hotspots |
| Turnaround Time | 3 to 4 Weeks | Often 6โ8 Weeks |
| Sample Flexibility | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | Venous blood only |
| Regulatory Compliance | DHA/MOHAP, ISO 9001:2015, UAE PDPL, UAE Health Data Law | Often lacks local UAE accreditation |
Physician Insight & Safety Protocols
โAccurate molecular diagnosis of Fanconi anemia type I through comprehensive FANCI gene sequencing is essential for guiding haematopoietic stem cell transplantation and family planning. However, a genetic result must always be interpreted alongside the full clinical picture including blood counts, physical stigmata, and family pedigree. I strongly recommend pre- and post-test genetic counselling to ensure patients and families fully understand the implications of their results.โ
โ Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication (e.g., androgens, corticosteroids, or supportive therapies) without consulting your treating physician. Genetic test results do not replace current clinical management.
Exclusion Criteria & Emergency Red Flags
- Acute bleeding or haemodynamic instability โ seek emergency care immediately.
- Known bone marrow failure syndrome with rapidly declining counts and active infection.
- Inability to provide informed consent; genetic testing in minors requires a DHA-licensed genetic counsellor alongside legal guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- If the patient is under 6 months and a buccal swab is considered, an FTA card is the preferred non-invasive sample, but consultation must be led by a paediatric haematologist.
Patient FAQ & Clinical Guidance
1. How accurate is the FANCI gene NGS test for diagnosing Fanconi anemia type I?
With full coverage of the FANCI coding region, the NGS test achieves diagnostic sensitivity exceeding 99% for pathogenic variants, making it the gold standard for molecular confirmation. False negatives are rare if the sample is adequate, but variants in regulatory regions or deep intronic areas may not be detected. The laboratory employs a bioinformatics pipeline validated under ISO 9001:2015, and results are interpreted following ACMG guidelines.
2. What sample types are accepted and does the home collection service work for children?
We accept 3 mL of whole blood in EDTA, extracted DNA, or a single drop of blood dried on an FTA card, ensuring flexibility for paediatric and anxious patients. Our VIP mobile phlebotomy team is trained in paediatric venipuncture and can collect from minors in the presence of a legal guardian, fully compliant with UAE regulations. The FTA card method is especially convenient for infants, requiring only a simple finger or heel prick.
3. How is my genetic data protected under UAE law?
We guarantee complete confidentiality of your genetic data under 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. No third-party sharing occurs without your explicit written consent; samples and data remain within secure servers inside the UAE. Pre- and post-genetic counselling sessions are included to help you understand your report.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework: This test operates under the full regulatory oversight of the Dubai Health Authority (DHA) in compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensuring all genetic data is processed lawfully, stored securely, and never shared without explicit patient consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governing the secure electronic transmission and storage of health records and genetic information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ providing the legal framework for clinical safety, informed consent obligations, and patient rights throughout the testing process.
- ISO 9001:2015 โ certified quality management system across all laboratory processes.
- DHA & MOHAP โ fully licensed for genetic diagnostic services within the UAE.
All results are encrypted, access-restricted, and retained strictly in accordance with UAE health data retention policies.
Clinical & Logistical Metadata
| Test Name | FANCI Gene Fanconi Anemia Type I Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | NGS (Next Generation Sequencing) with full gene coverage; MLPA for copy number variants |
| ICD-10-CM Code | D61.09 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians