Test Price
2,800 AED✅ Home Collection Available
SUMF1 Gene Sulfatase Deficiency Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- ✓ 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.
- ✓ Clinical Guidance: Telephonic post-test result interpretation by DHA-licensed genetic counsellors, including mandatory pre- and post-test counselling.
- ✓ Insurance: Direct billing verification available via WhatsApp +971 54 548 8731.
- ✓ Corporate Oversight: DNA Labs UAE – DHA Facility License No. 1143 – premises verified in Dubai Healthcare City.
Test Overview & Methodology
This test analyses the full coding region of the SUMF1 gene using Next Generation Sequencing (NGS) to diagnose Multiple Sulfatase Deficiency (MSD), a rare autosomal recessive lysosomal storage disorder caused by impaired formylglycine-generating enzyme. The assay detects single nucleotide variants, small insertions/deletions, and copy number variations across all exons and flanking intronic regions with greater than 99.9% analytical sensitivity.
| Feature | Our Test (SUMF1 NGS) | Closest Alternative (Single Enzyme Assay) |
|---|---|---|
| Precision | Full gene sequencing + deletion/duplication analysis; detects point mutations, indels, CNVs with >99.9% sensitivity | Measures enzymatic activity only; cannot identify carrier status or specific mutation type |
| Method | Next Generation Sequencing (NGS) with bioinformatic variant interpretation | Fluorometric or colorimetric enzyme assay from leukocytes/fibroblasts |
| Speed | 3–4 weeks | 2–3 weeks |
| Clinical Utility | Confirms molecular diagnosis, identifies carriers, guides family planning and prenatal testing | Provides biochemical evidence of sulfatase deficiency but cannot differentiate MSD from single sulfatase deficiencies |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I recognise the profound emotional journey families undertake when seeking answers for suspected metabolic disorders. This NGS test provides a definitive molecular diagnosis for multiple sulfatase deficiency, but results must always be interpreted alongside clinical examination and biochemical markers. Our team offers compassionate, evidence-based counselling at every stage to ensure you fully understand the implications for your family.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Pre-Test Advisory
Never discontinue prescribed therapies without consulting your treating physician. Genetic test results may inform long-term management strategies but should never trigger abrupt cessation of current medications. All treatment modifications must be supervised by your metabolic specialist.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active infection with fever exceeding 38.5°C within 48 hours prior to collection (postpone until resolved); individuals unable to provide informed consent.
- Red Flags – Seek immediate medical attention if you experience: unexplained developmental regression, severe hypotonia, new-onset seizures, or loss of previously acquired skills after testing.
- This test is not a substitute for urgent metabolic crisis management; contact your nearest emergency department if symptoms worsen acutely.
Patient FAQ & Clinical Guidance
1. What is SUMF1 gene sulfatase deficiency and who should get tested?
Multiple sulfatase deficiency (MSD) is a rare autosomal recessive disorder caused by pathogenic variants in the SUMF1 gene, leading to deficient activity of all cellular sulfatases. The condition presents with severe neurological deterioration, coarse facial features, skeletal abnormalities, and organomegaly, typically in early childhood. Testing is recommended for individuals with unexplained developmental delay, dysmorphic features, ichthyosis, or a family history of lysosomal storage disease, always preceded by genetic counselling.
2. How accurate is the NGS test, and does it require any special preparation?
Our NGS test delivers 99.9% analytical sensitivity for single nucleotide variants, small indels, and copy number changes across the entire SUMF1 coding region, with results interpreted against the latest ACMG/AMP variant classification guidelines. No fasting is required; a simple blood draw or buccal swab is sufficient. The sample is processed in our ISO 9001:2015 accredited laboratory with full chain-of-custody documentation.
3. Will my insurance cover this genetic test in the UAE, and what support is offered?
Coverage varies by insurance plan; our team provides direct billing verification via WhatsApp +971 54 548 8731. Every test includes mandatory pre-test and post-test genetic counselling sessions, temperature-controlled home collection, and lifelong access to result re-interpretation as medical knowledge evolves – all fully compliant with UAE data protection and healthcare regulations.
4. How long does it take to receive results, and how will they be communicated?
Standard turnaround time is 3–4 weeks from sample receipt. Results are reviewed by our consultant medical geneticist and communicated during a structured post-test counselling session via secure telemedicine, accompanied by a detailed written report including variant annotations and clinical recommendations.
UAE Regulatory & Data Privacy Adherence
All genetic testing services at DNA Labs UAE operate in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring your genetic data is collected, processed, and stored with explicit consent, purpose limitation, and robust security controls.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing the secure handling of electronic health records and telemedicine consultations.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – safeguarding patient safety and informed consent throughout the diagnostic pathway.
Your results remain strictly confidential and are shared only with you and your designated healthcare provider.
Clinical & Logistical Metadata
| Test Name | SUMF1 Gene Sulfatase Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (5 ml in EDTA tube) or Buccal Swab. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM). |
| Methodology Used | Next Generation Sequencing (NGS) with bioinformatic variant interpretation |
| ICD-10-CM Code | E75.26 (Multiple sulfatase deficiency) |
| LOINC Code | 94222-8 (SUMF1 gene mutation analysis in Blood or Tissue by NGS) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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