Test Price
2,800 AEDโ Home Collection Available
GATA3 Gene Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical & Operational Confidence
- Diagnostic Accuracy: 99.9 % analytical sensitivity via ISO 9001:2015 accredited NGS platform with Sanger confirmation of all pathogenic variants.
- Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM โ 11 PM across Dubai and Northern Emirates.
- Post-Test Support: Complimentary telephonic consultation with a DHA-licensed Consultant Medical Geneticist to interpret findings and guide family screening.
- Insurance & Billing: Direct billing verification available โ forward your Emirates ID via WhatsApp to +971 54 548 8731 to confirm coverage within 2 business hours.
Test Overview & Methodology
The GATA3 gene Next-Generation Sequencing (NGS) assay interrogates the complete coding region plus intron-exon boundaries to detect single nucleotide variants, small insertions/deletions, and copy number alterations responsible for HDR syndrome โ an autosomal dominant disorder characterised by hypoparathyroidism, bilateral sensorineural hearing loss, and renal dysplasia. Variants are classified according to ACMG 2026 guidelines and confirmed by bi-directional Sanger sequencing where quality thresholds require orthogonal validation.
| Feature | Our Test โ GATA3 NGS (2800 AED) | Closest Alternative โ Targeted GATA3 Panel |
|---|---|---|
| Precision | Full gene sequencing + Sanger validation; detects novel variants & CNVs | Predefined hotspot mutations only; may miss rare pathogenic variants |
| Methodology | NextโGeneration Sequencing (Illumina NovaSeq X Plus) with ACMG 2026 classification | Multiplex PCR / Sanger limited to known loci |
| Turnaround Time | 3 โ 4 Weeks (express possible) | 2 โ 4 Weeks (but often requires reflex to full gene test) |
Physician Insight & Safety Protocols
โFrom a clinical genetics perspective, HDR syndrome presents with variable expressivity โ a normal calcium level at baseline does not exclude intermittent hypocalcaemia, and unilateral renal agenesis may remain asymptomatic for years. This NGS assay provides the molecular anchor needed to stratify surveillance for nephrocalcinosis, hearing deterioration, and parathyroid reserve. I always emphasise that a negative result does not override a strong clinical phenotype; correlating biochemistry, audiology, and renal imaging remains essential. Families should receive pre-test genetic counselling to discuss implications for at-risk relatives.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ ๏ธ Medication Advisory
Do not alter or discontinue any prescribed calcium, vitamin D analogues, or phosphate binders without direct instruction from your treating endocrinologist or nephrologist. The genetic result informs long-term management strategy, not acute medication titration.
๐จ Safety Exclusion & Emergency Red Flags
- Active febrile illness or uncorrected coagulopathy โ home phlebotomy may be deferred until clinical clearance is obtained.
- Inability to provide informed consent (minors require legally authorised guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Seek immediate emergency care for severe tetany, inspiratory stridor, generalised seizures, or syncope while awaiting results โ these signs may indicate acute hypocalcaemic crisis unrelated to the blood draw procedure.
Patient FAQ & Clinical Guidance
1. What condition does the GATA3 NGS test diagnose?
This assay identifies pathogenic variants in the GATA3 gene that cause HDR syndrome (Barakat syndrome), a hereditary disorder encompassing hypoparathyroidism, bilateral sensorineural hearing loss, and renal anomalies ranging from mild dysplasia to bilateral agenesis. Establishing a molecular diagnosis enables targeted surveillance for endocrine, auditory, and renal complications.
2. How is the blood sample collected and what preparation is needed?
No fasting is necessary. A DHA-licensed phlebotomist performs a gentle venipuncture to obtain 2 โ 4 mL of whole blood in an EDTA tube during a scheduled home visit. A brief clinical history and three-generation pedigree are documented to support variant interpretation. Collection is available daily from 8 AM to 11 PM.
3. When will I receive the report and how is it explained?
The final report, which includes variant classification per ACMG 2026 criteria, is delivered securely via encrypted portal within 3 โ 4 weeks of sample receipt. A complimentary tele-consultation with our Consultant Medical Geneticist is scheduled to review the findings, discuss screening recommendations for first-degree relatives, and coordinate referrals to endocrinology, audiology, or nephrology as indicated.
4. Does a negative result completely rule out HDR syndrome?
No. A negative NGS result does not exclude HDR syndrome because deep intronic variants, large structural rearrangements, or mosaic mutations may evade detection by standard sequencing. Clinical correlation with serum calcium, parathyroid hormone, audiometry, and renal ultrasound is mandatory. If clinical suspicion remains high, reflex to whole-exome or whole-genome sequencing may be considered.
UAE Regulatory & Data Privacy Adherence
Regulatory Framework & Data Governance
All genetic testing, data storage, and result reporting at DNA Labs UAE 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. Patient genomic data is encrypted at rest and in transit, access is restricted to authorised clinical personnel, and no genetic information is shared with third parties without explicit written consent. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our laboratory holds DHA Facility License Number 1143 and maintains ISO 9001:2015 certification (INT/EGQ/2509DA/3139) for quality management in genetic diagnostic services.
Clinical & Logistical Metadata
| Test Name | GATA3 Gene HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks (express expedite available on request) |
| Sample Type / Matrix | Whole Blood (EDTA tube) โ 2 โ 4 mL |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus with Sanger confirmation; CNV analysis via bioinformatic depth-of-coverage |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 78804-5 |
| 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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