Test Price
2,800 AEDโ Home Collection Available
HCFC1 Gene Sequencing for X-Linked Intellectual Disability Type 3 โ Genetic Test in UAE | DNA Labs UAE
Executive Summary & Core Metrics
- โ Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 accredited NGS processing.
- โ Premium Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- โ Clinical Guidance: Telephonic post-test genetic counselling by a DHA-licensed Consultant Medical Genetics specialist.
- โ Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The HCFC1 Genetic Test sequences the entire coding region of the HCFC1 gene on Xq28 using Next Generation Sequencing (NGS), detecting pathogenic variants responsible for X-linked intellectual disability type 3 (MRX3) and the associated cblX metabolic disorder. This molecular analysis provides definitive diagnosis, identifies carrier status, and supports reproductive planning for affected families in the UAE. The test delivers comprehensive coverage of single nucleotide variants, small insertions and deletions, and copy number variants across all exons and flanking intronic regions.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Resolution | Full gene sequencing โ detects SNVs, indels, CNVs | Targeted mutation hotspots only |
| Turnaround Time | 3โ4 weeks | 4โ6 weeks |
| Clinical Utility | Comprehensive โ diagnostic, prognostic, family screening | Limited to known familial variant |
Physician Insight & Safety Protocols
A Note from Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA Registration ID: 9294403)
โIn my practice, I have seen how a precise genetic diagnosis can transform the care pathway for a child with developmental delay and their family. This test offers clarity when the clinical picture is complex, but I strongly advise that every result be reviewed in conjunction with a detailed family history and metabolic evaluation. A negative sequencing result does not exclude other genetic etiologies, and a positive finding requires coordinated multidisciplinary follow-up. My goal is to ensure that the information empowers your family with actionable, compassionate guidance at every step.โ
Advisory on Genetic Counselling & Interpretation
Genetic test results carry implications not only for the individual tested but also for biological relatives. Pre-test counselling is strongly recommended to discuss potential outcomes, limitations, and the possibility of incidental findings. A positive finding for an HCFC1 variant should prompt cascade testing in at-risk female relatives and consultation with a clinical geneticist for tailored surveillance and management planning. Do not base reproductive decisions solely on a single test result without comprehensive genetic counselling.
Safety Exclusion Criteria & Red Flags
- Exclusion: Inability to provide informed consent (or legal guardian consent for minors as required by Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Exclusion: Untreatable bleeding disorder where venipuncture poses excessive risk. A DNA FTA card (dried blood spot) collection may be considered as an alternative if clinically appropriate and approved by the treating physician.
- Red Flags: If you experience severe psychological distress or suicidal ideation upon learning test results, seek immediate emergency care or call 998. This test is not indicated for acute clinical decision-making or emergency diagnosis.
Patient FAQ & Clinical Guidance
1. What does the HCFC1 gene test detect and who should consider it?
This test identifies pathogenic DNA variants in the HCFC1 gene that cause X-linked intellectual disability type 3 (MRX3) and cblX metabolic disorder. It is recommended for individuals presenting with unexplained developmental delay, hypotonia, or a family history of intellectual disability in males that follows an X-linked inheritance pattern. The test is also appropriate for female carriers seeking reproductive risk assessment.
2. How should I prepare for the blood draw or sample collection?
No fasting is required. Maintain normal hydration and inform the phlebotomist of any bleeding disorders or anticoagulant use. For whole blood collection, a small volume is drawn using aseptic technique. For DNA FTA card collection, a simple finger-prick is performed. Our DHA-licensed nurses conduct all home collections under strict cold-chain protocol (2โ8ยฐC) to preserve nucleic acid integrity.
3. Will my insurance cover this test and what financial support do you offer?
Coverage depends on your insurance policyโs genetic testing provisions. We verify benefits directly via WhatsApp at +971 54 548 8731 and submit pre-approval requests with clinical justification from your neurologist or paediatrician. The self-pay rate is 2800 AED, which includes pre- and post-test genetic counselling by our Consultant Medical Genetics team.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance Framework
This service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that all genetic data is collected, processed, and stored with the highest standards of confidentiality and security. Additionally, the laboratory adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which governs the electronic handling of health information. All clinical procedures, including patient consent and sample handling, follow the standards set forth in Federal Decree-Law No. 4 of 2016 on Medical Liability.
Specimens are processed in an ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139). Results are released only to the ordering physician and the patient through a secure, encrypted portal.
Clinical & Logistical Metadata
| Test Name | HCFC1 Gene Sequencing for X-Linked Intellectual Disability Type 3 |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood, DNA FTA Card, or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | F78 (Other intellectual disabilities) |
| LOINC Code | 55233-1 (Genetic analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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