Test Price
2,800 AED✅ Home Collection Available
ATR Gene Seckel Syndrome Type 1 – Next-Generation Sequencing (NGS) Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Summary & Trust Indicators
The ATR gene sequencing test employing next-generation sequencing (NGS) technology delivers a definitive molecular diagnosis for Seckel syndrome type 1, an autosomal recessive primordial dwarfism disorder. With a validated diagnostic sensitivity exceeding 99.9% and specificity calibrated to ISO 9001:2015 standards, this assay identifies pathogenic single nucleotide variants, small insertions or deletions, and exon-level copy number changes across the entire coding region of the ATR gene.
- Accuracy Guarantee: 99.9% diagnostic sensitivity through ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM–11 PM).
- Clinical Guidance: Post-test telephonic interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance Facilitation: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This massively parallel NGS assay interrogates all coding exons and flanking intronic regions of the ATR gene to detect pathogenic variants causative of Seckel syndrome type 1. The disorder is characterised by severe intrauterine growth retardation, postnatal dwarfism, microcephaly, and a distinctive facial phenotype. Early molecular confirmation enables paediatricians, neonatologists, and clinical geneticists to implement targeted surveillance, family counselling, and multidisciplinary management planning.
| Feature | DNA Labs UAE ATR NGS Test (Premium) | Conventional Single-Gene Sequencing |
|---|---|---|
| Technology | Massively parallel next-generation sequencing with advanced bioinformatics filtering | Sanger sequencing of selected exons only |
| Detection Rate | >99.9% sensitivity and specificity for all pathogenic SNVs, indels, and CNVs | ~80% detection rate; misses deep intronic and large rearrangement events |
| Turnaround Time | 3–4 weeks (expedited processing available on request) | 6–8 weeks |
| Sample Options | Whole blood, extracted DNA, or dried blood spot (FTA card) | Whole blood only |
| Regulatory Compliance | ISO 9001:2015, UAE PDPL (Federal Decree-Law No. 45 of 2021), Federal Law No. 2 of 2019 | Variable |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: "Receiving a diagnosis of Seckel syndrome type 1 changes a family's trajectory. This NGS test provides the molecular clarity needed to guide prognostic conversations, surveillance planning, and recurrence risk counselling. No genetic result should ever stand alone — it must be integrated with clinical evaluation, growth parameters, and developmental assessments. Families facing this diagnosis deserve both scientific precision and compassionate support at every step."
Advisory on Ongoing Therapies
Medication and Supplement Continuation
Do not pause, alter, or discontinue any prescribed medication, vitamin, or nutritional supplementation based solely on genetic test results. Changes to therapeutic regimens must be directed and supervised by your managing physician after a comprehensive clinical review.
Exclusion Criteria & Emergency Indicators
Pre-Test Contraindications and Urgent Warning Signs
- Postpone elective genetic testing if you have an active uncontrolled infection or febrile illness.
- If you received a blood transfusion within the last 14 days, defer sampling for two weeks to avoid risk of maternal cell contamination.
- Emergency red flags — proceed to the nearest emergency department immediately: acute neurological deterioration, abnormal posturing, new-onset seizures, severe dehydration, or any signs suggesting elevated intracranial pressure in the context of known microcephaly.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this ATR gene NGS test for Seckel syndrome type 1?
The assay achieves a validated diagnostic sensitivity exceeding 99.9% for all classes of pathogenic variation within the ATR gene, including single nucleotide variants, small insertions or deletions, and exon-level copy number alterations. Analytical specificity is maintained through orthogonal confirmation of all reportable findings and cross-referencing against ClinVar, HGMD, and gnomAD population databases.
2. Is prenatal testing available, and what consent framework applies for minors in the UAE?
Yes, prenatal analysis can be arranged following comprehensive genetic counselling and written informed consent from both parents. For minors, UAE regulations under Federal Law No. 2 of 2019 mandate parental or guardian consent accompanied by a mandatory genetic counselling session to ensure the child's welfare and informed family decision-making.
3. Will my health insurance policy cover the 2,800 AED cost of this genetic test?
Coverage depends on your specific policy and insurer. Our dedicated billing team verifies eligibility and initiates pre-approval within 24 hours of receiving your Emirates ID and insurance card. Send copies via WhatsApp to +971 54 548 8731, and we will manage the entire authorisation process on your behalf.
4. How should I prepare for the blood sample collection at home?
No special preparation such as fasting is required for this genetic test. Stay well hydrated before collection. Our mobile phlebotomist will arrive with sterile equipment and a temperature-controlled transport kit. The procedure takes approximately 10 minutes, and the sample is immediately logged into our cold-chain logistics system for transit to the laboratory.
UAE Regulatory & Data Privacy Adherence
Data Protection and Legal Compliance Framework
All genetic data generated by this test is processed and stored in full compliance 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. These statutes guarantee your right to access, rectify, and request deletion of your health data, and mandate strict encryption, access controls, and audit logging throughout the data lifecycle.
Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every step — from pre-test counselling through result disclosure — is conducted under a documented duty of care.
Clinical & Logistical Metadata
| Test Name | ATR Gene Seckel Syndrome Type 1 – Next-Generation Sequencing (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited option available) |
| Sample Type / Matrix | Whole blood, extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Massively parallel next-generation sequencing (NGS) with bioinformatics analysis and orthogonal confirmation |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 81267-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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