Test Price
2,800 AEDโ Home Collection Available
ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for coding and splice-site variants via ISO 9001:2015-certified next-generation sequencing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Post-Test Support: Telephonic genetic counselling session with a board-certified consultant to interpret results and guide family planning.
- Insurance Facilitation: Direct coverage verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This diagnostic assay employs full-gene next-generation sequencing (NGS) with high-depth coverage to detect pathogenic variants across the entire ERCC6 gene, confirming Cerebrooculofacioskeletal Syndrome type 1 (COFS1). COFS1 is a severe autosomal recessive disorder characterised by dysmorphic facies, microcephaly, growth retardation, and skeletal anomalies. The test is primarily ordered by clinical geneticists, paediatricians, and neonatologists when infants or children present with dysmorphology and developmental delay, enabling early supportive care and accurate recurrence-risk counselling for families.
| Feature | Our NGS Test | Alternative Sanger Approach |
|---|---|---|
| Methodology | Full-gene NGS with high-depth coverage | Sanger sequencing of selected exons only |
| Diagnostic Sensitivity | 99.9% for coding regions and splice sites | ~80% (misses deep intronic variants) |
| Turnaround Time | 3โ4 weeks | 6โ8 weeks |
| Clinical Report | ACMG-compliant report with genetic counselling support | Basic variant list |
Pre-Test Requirements
- Detailed clinical history and a three-generation pedigree chart; a mandatory pre-test genetic counselling session is required.
- Sample types accepted: whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card.
- Home collection service available daily 8 AM โ 11 PM; FTA cards require separate room-temperature transport.
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: โTargeted ERCC6 sequencing provides families with definitive molecular diagnosis and enables precise recurrence-risk assessment. I strongly recommend that all abnormal findings be correlated with clinical presentation and discussed in a post-test genetic counselling session to outline supportive care strategies and reproductive options.โ
Clinical Advisory & Pre-Test Guidance
Essential Pre-Test Considerations
- Informed consent must be obtained from the patient or, for minors, from both parents or legal guardians prior to sample collection.
- A three-generation pedigree is required to assess inheritance patterns and identify at-risk relatives.
- Results should always be interpreted alongside clinical findings and never used as the sole basis for medical management decisions.
Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent; for paediatric patients, consent from both parents or legal guardians is mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Active systemic infection or severe haematological disorder that may compromise DNA quality; alternative sampling may be advised.
- Seek immediate medical care if the patient develops seizures, recurrent apnoea, or severe feeding difficulties, as these may indicate disease progression requiring urgent intervention.
- This test is not designed for standalone prenatal diagnosis; always combine with genetic counselling and parental carrier testing under applicable IVD regulations.
Patient FAQ & Clinical Guidance
1. What does the ERCC6 genetic test detect?
Key Insight: This assay identifies disease-causing variants across the entire ERCC6 gene, confirming a diagnosis of Cerebrooculofacioskeletal Syndrome type 1 (COFS1) and providing critical information for prognosis, family counselling, and recurrence-risk estimation.
2. How accurate is the NGS method for COFS1 diagnosis?
Key Insight: Next-generation sequencing delivers 99.9% diagnostic sensitivity for coding and splice-site variants, far exceeding traditional Sanger sequencing and offering comprehensive coverage of the ERCC6 gene.
3. How soon will I receive results and what support is provided?
Key Insight: Results are available within 3โ4 weeks. A board-certified genetic counsellor provides a telephonic session to interpret the findings, discuss inheritance patterns, and outline next steps for care and family planning.
4. What sample types are accepted for this genetic test?
Key Insight: We accept whole blood (EDTA), extracted DNA, or a single drop of blood on an FTA card. For FTA cards, room-temperature transport is used; all other specimens are collected via temperature-controlled cold-chain logistics.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: All laboratory procedures and data handling practices comply 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. Genetic information is stored and processed under ISO 9001:2015-certified security protocols. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coverage |
| ICD-10-CM Code | Q87.0, Z13.71 |
| LOINC Code | 82989-0 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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