Test Price
2,800 AED✅ Home Collection Available
FUCA1 Gene Fucosidosis Next‑Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical Certainty & Patient-Centric Care
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015‑accredited NGS 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) with ISO‑certified transport and full chain-of-custody.
- Clinical Guidance: Complimentary post‑test telephonic session to interpret results with a DHA‑licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FUCA1 NGS test sequences the entire coding region and conserved intronic boundaries of the FUCA1 gene to identify pathogenic variants responsible for fucosidosis, a rare autosomal recessive lysosomal storage disease that leads to progressive neurological deterioration and multi-system involvement. Next‑Generation Sequencing technology delivers comprehensive coverage with >99.9% sensitivity for single nucleotide variants, insertions, deletions, and splice-site mutations.
| Feature | Our Test (FUCA1 NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Diagnostic Precision | Full gene coverage; >99.9% sensitivity for all mutation types including deep intronic and structural variants | Limited to known hotspots; may miss novel, deep intronic, or splice-altering variants |
| Methodology | Next‑Generation Sequencing (NGS) with bioinformatics pipeline validated to ACMG/AMP guidelines | Sanger sequencing of selected exons only |
| Turnaround Time | 3–4 Weeks (comprehensive clinical report with variant interpretation) | 4–6 Weeks (limited reporting scope) |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist specializing in inborn errors of metabolism, I consider the FUCA1 NGS test an essential first‑line molecular tool for confirming fucosidosis when clinical suspicion is raised by coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, and neurodevelopmental regression. The results must always be correlated with enzymatic alpha‑L‑fucosidase activity assays and neuroimaging findings. A definitive genetic diagnosis empowers families with accurate recurrence risk counselling and paves the way for surveillance of complications such as recurrent infections and cardiac involvement. Do not adjust or discontinue any prescribed therapy solely based on genetic results without direct specialist consultation.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do Not Discontinue Prescribed Medication Without Physician Consultation
Genetic test results are not a substitute for ongoing clinical management. Abrupt cessation of anti‑epileptics, enzyme replacement therapy, or neuroprotective agents may provoke acute neurological deterioration. Maintain all current medications and discuss any changes exclusively with your treating specialist.
Safety Exclusion Criteria & Emergency Red Flags
- Acute neurological crisis (status epilepticus, loss of consciousness, acute stroke) – seek emergency care first; testing may be deferred until the patient is stabilised.
- Minors must have legal guardian consent in full compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Incomplete pre‑test genetic counselling – a documented pedigree chart and detailed clinical history are mandatory prerequisites before sample collection.
- Active severe infection or haemodynamic instability may contraindicate venepuncture; stabilise the patient before proceeding.
- If you experience sudden vision loss, unrelenting headache with vomiting, rapid motor decline, or chest pain, proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is fucosidosis, and why is genetic testing crucial?
Clinical Snippet: Fucosidosis is a rare, inherited lysosomal storage disorder caused by deficiency of alpha‑L‑fucosidase due to FUCA1 gene mutations, resulting in progressive neurological decline, coarse facial features, skeletal abnormalities, and recurrent infections. Genetic testing confirms the diagnosis, identifies carrier status in family members, and enables early intervention and accurate prognosis.
2. How is the FUCA1 NGS test performed, and what sample is needed?
Clinical Snippet: The test requires a peripheral whole blood sample (3–5 mL in EDTA), a dried blood spot on filter paper, or extracted genomic DNA. Next‑Generation Sequencing is then performed to analyse every coding exon and conserved flanking intronic region of the FUCA1 gene with high-depth coverage. Results are interpreted according to ACMG/AMP variant classification guidelines.
3. What do the results mean for my child’s future and family planning?
Clinical Snippet: A positive result identifies the specific disease‑causing variants, helps predict clinical severity based on genotype‑phenotype correlations, and informs recurrence risks (25% for each pregnancy in carrier parents). Post‑test genetic counselling translates the molecular findings into a personalised medical surveillance plan and discusses reproductive options including preimplantation genetic testing.
UAE Regulatory & Data Privacy Adherence
All genetic testing procedures at DNA Labs UAE are conducted in strict adherence to 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 genomic data is encrypted, access‑controlled, and processed solely for diagnostic purposes with explicit written consent. Clinical safety and patient consent protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | FUCA1 Gene Fucosidosis Next‑Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), dried blood spot, or extracted genomic DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with full gene coverage and bioinformatics variant interpretation per ACMG/AMP guidelines |
| ICD-10-CM Code | E77.1 |
| LOINC Code | 94721-2 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians