Test Price
2,600 AED✅ Home Collection Available
Ataxia-Telangiectasia Genetic Testing (NGS with Sanger Confirmation) in the UAE | 2,600 AED | DHA-Aligned Molecular Diagnostics
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited laboratory processing with NGS plus confirmatory Sanger sequencing, delivering definitive ATM gene mutation detection across all coding regions and splice sites.
- Premium Logistics – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM throughout Dubai and the UAE.
- Clinical Guidance – Complimentary telephonic post‑test result interpretation session with a DHA‑licensed genetic counsellor.
- Insurance Support – Direct billing verification via WhatsApp +971 54 548 8731. We coordinate with your insurer for seamless processing.
Test Overview & Methodology
The Ataxia‑Telangiectasia (A‑T) genetic test screens the entire ATM gene using Next‑Generation Sequencing (NGS) with Sanger confirmation for all identified variants. This combination provides the highest analytical sensitivity for detecting pathogenic single‑nucleotide variants, small insertions/deletions, and exon‑level copy‑number changes. The test is the definitive molecular tool for diagnosing A‑T, an autosomal recessive disorder characterised by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, and markedly elevated cancer risk — particularly lymphoid malignancies. Early molecular confirmation enables timely initiation of cancer surveillance, immunoglobulin monitoring, and family cascade testing.
| Feature | Our Test (NGS + Sanger) | Standard Single‑Gene Test |
|---|---|---|
| Precision | 99.9% analytical sensitivity; confirmation of all pathogenic/likely pathogenic variants including deep intronic regions | May miss deep intronic or copy‑number variants; only hotspot regions analysed |
| Methodology | NGS (full gene, 60X coverage) + Sanger bidirectional confirmation | Sanger sequencing of selected exons only |
| Turnaround Time | 40 working days (comprehensive reporting with ACMG classification) | Often 8–12 weeks due to sequential screening steps |
| Clinical Relevance | ACMG variant classification, cancer risk sub‑typing, familial segregation ready | Limited interpretability, no systematic sub‑typing or CNV detection |
Physician Insight & Safety Protocols
"When a child presents with unexplained progressive cerebellar ataxia, characteristic eye movement abnormalities, and recurrent sinopulmonary infections, I order the ATM gene test to establish a definitive diagnosis. A positive result not only confirms Ataxia‑Telangiectasia but also triggers essential cancer surveillance, immunoglobulin monitoring, and family counselling. This molecular data must always be interpreted in the context of the full clinical picture and pedigree analysis."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Clinical Considerations
- Medication continuity: Do not discontinue any prescribed therapy before providing the blood sample without explicit instruction from your managing physician.
- Paediatric evaluation: Testing in children should only proceed after formal clinical assessment by a paediatric neurologist or clinical geneticist.
- Informed consent: A fully completed Whole Exome Sequencing Consent Form (Form 37) is mandatory prior to sample collection. The form will be provided by our phlebotomist at the time of visit.
- Medical stability: Patients with active severe infections or bone marrow failure should defer elective testing until their condition is stable.
Exclusion Criteria & Emergency Red Flags
- Emergency situations: This test is non‑urgent and does not replace acute medical management. Seek immediate emergency care if the patient develops sudden severe ataxia, uncontrolled vomiting, status epilepticus, or signs of systemic infection (sepsis).
- Haematological contraindications: Patients with active bone marrow failure or severe coagulopathy should postpone venipuncture until medically cleared.
- Insufficient clinical context: Testing should not be ordered without prior evaluation by a specialist familiar with the diagnostic criteria for Ataxia‑Telangiectasia.
Patient FAQ & Clinical Guidance
1. What is the Ataxia‑Telangiectasia genetic test and how does NGS improve detection?
This test analyses the entire ATM gene using Next‑Generation Sequencing followed by Sanger confirmation. NGS reads every coding exon and splice junction at high depth (60X coverage), enabling detection of point mutations, small indels, and copy‑number variants that standard single‑gene sequencing would miss. The Sanger step independently verifies each identified variant, delivering >99.9% analytical sensitivity.
2. How is the blood sample collected and handled in the UAE?
Two lavender‑top (EDTA) tubes of peripheral whole blood are drawn by our VIP mobile phlebotomy team at your home or office between 8 AM and 11 PM daily. The specimen is immediately placed in a temperature‑controlled cold‑chain shipper and transported to our ISO 9001:2015 accredited laboratory in Dubai Healthcare City. This logistics chain ensures sample integrity from vein to analysis.
3. What do my test results mean and what are the next steps?
A positive result confirms a pathogenic or likely pathogenic variant in the ATM gene, establishing the diagnosis of Ataxia‑Telangiectasia. This triggers a structured care pathway including cancer surveillance (lymphoma and leukaemia monitoring), immunoglobulin replacement assessment, and family cascade testing. A negative result reduces but does not fully exclude the diagnosis and may warrant further neurological and genetic workup. Your results will be reviewed with you during a complimentary telephonic session with our DHA‑licensed genetic counsellor.
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) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. Your genomic data is encrypted, access‑controlled, and never shared with third parties without your explicit written consent. Our laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143. All genetic counselling adheres to DHA Circular guidelines for molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | Ataxia‑Telangiectasia Genetic Testing (NGS with Sanger Confirmation) |
| Price (AED) | 2,600 |
| Turnaround Time | 40 working days |
| Sample Type / Matrix | Peripheral whole blood (Lavender‑top EDTA tubes) |
| Methodology Used | Next‑Generation Sequencing (NGS, 60X coverage) + Sanger bidirectional confirmation |
| ICD-10-CM Code | G11.3 |
| LOINC Code | 92041-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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