Test Price
2,800 AEDโ Home Collection Available
TBX1 Gene DiGeorge Syndrome Genetic Test in Dubai | NGS Sequencing | 2,800 AED
Executive Summary & Core Metrics
This molecular assay delivers targeted next-generation sequencing of the TBX1 gene, the principal genetic determinant of DiGeorge syndrome (22q11.2 deletion syndrome). The test achieves a diagnostic sensitivity exceeding 99.9% through ISO 9001:2015 accredited processing. Clinical interpretation is supported by post-test telephonic guidance from a board-certified consultant medical geneticist.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TBX1 gene encodes a T-box transcription factor critical for embryonic development of the pharyngeal arch, cardiac outflow tract, thymus, and parathyroid glands. Pathogenic variants in TBX1 recapitulate the core features of DiGeorge syndrome, including conotruncal cardiac defects, T-cell immunodeficiency, and hypocalcemia due to parathyroid dysfunction.
This targeted next-generation sequencing assay interrogates all coding exons and flanking intronic regions of TBX1 for single nucleotide variants, small insertions and deletions, and copy number alterations at exon-level resolution. The test is validated for germline variant detection and is performed on genomic DNA extracted from peripheral whole blood or archival specimens.
| Feature | Our TBX1 NGS Test | Chromosomal Microarray (Closest Alternative) |
|---|---|---|
| Technique | Next Generation Sequencing (targeted TBX1) | Genome-wide copy number analysis |
| Resolution | Single nucleotide to exon-level CNV | โฅ50 kb CNV detection (misses point mutations) |
| Turnaround Time | 3โ4 Weeks | 2โ4 Weeks (may require reflex NGS) |
| Clinical Relevance | Directly confirms TBX1 variant pathogenicity | May detect 22q11.2 deletion but not TBX1 point mutations |
Physician Insight & Safety Protocols
Genetic testing can illuminate a childโs complex presentation, but it must always be interpreted alongside clinical findings; a negative TBX1 result does not exclude other genetic or syndromic causes, and any positive variant necessitates dedicated genetic counseling. Whenever you receive a report, please ensure follow-up with a pediatric geneticist to map the full care plan.
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Medication Guidance
Do not discontinue prescribed medication without consulting your doctor. Test results are not a substitute for ongoing therapeutic management. Always discuss genetic findings with a qualified specialist before making any changes to treatment.
Exclusion Criteria & ER Red Flags
- Exclusion: This test is not intended for asymptomatic individuals with no family history of DiGeorge syndrome or related cardiac or immune anomalies, and it should never replace standard clinical evaluation or newborn screening.
- Emergency Red Flags: If your child experiences severe breathing difficulties, cyanosis, prolonged seizures, or signs of hypocalcemic tetany, seek immediate emergency care. A pending genetic result must not delay life-saving interventions.
Patient FAQ & Clinical Guidance
1. What is the TBX1 gene and its role in DiGeorge syndrome?
The TBX1 gene encodes a transcription factor essential for embryonic development of the heart, thymus, and parathyroid glands; pathogenic variants disrupt these structures and cause the classic triad of DiGeorge syndrome: cardiac outflow tract defects, immunodeficiency, and hypocalcemia.
2. How is the NGS test performed and what sample is required?
The test requires a peripheral whole blood sample collected via standard venipuncture. DNA is extracted and sequenced using high-throughput next-generation technology, achieving 99.9% analytical sensitivity for TBX1 variants. For patients unable to visit the lab, our VIP mobile phlebotomy service provides temperature-controlled home collection daily from 8 AM to 11 PM.
3. What does a positive TBX1 gene mutation result mean for my child?
A positive result identifies a pathogenic variant within TBX1, confirming susceptibility to DiGeorge syndrome spectrum; clinical severity varies, so a multidisciplinary team including pediatric cardiology, immunology, endocrinology, and genetics must individualize management. Our post-test telephonic guidance helps coordinate specialist referrals.
4. Can this test detect all causes of DiGeorge syndrome?
No. While TBX1 is the primary genetic driver, the 22q11.2 deletion is the most common cause. Our assay detects point mutations and small indels in TBX1 but does not detect large chromosomal deletions. Chromosomal microarray is recommended as a complementary first-line test to rule out 22q11.2 deletion.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly complies with the UAE 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. All genetic data is encrypted, access-controlled, and processed exclusively within Dubai Healthcare City under DHA Facility License No. 1143. Federal Decree-Law No. 4 of 2016 on Medical Liability governs clinical safety and patient consent protocols applied throughout the testing lifecycle.
Results are released only to the ordering physician and the patient or legal guardian after verified identity confirmation. No genetic information is shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | TBX1 Gene Sequencing for DiGeorge Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3โ5 mL in EDTA tube); also accepts extracted genomic DNA (โฅ1 ยตg) or FTA card blood spot |
| Methodology Used | Next Generation Sequencing (NGS) โ Targeted gene panel with full coding exons and flanking intronic regions of TBX1; CNV analysis via read-depth algorithm |
| ICD-10-CM Code | D82.1 |
| LOINC Code | 93936-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians