Test Price
2,800 AED✅ Home Collection Available
CASR Gene Hypocalcemia, Autosomal Dominant with Bartter Syndrome NGS Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Executive Summary
This advanced NGS-based test sequences the entire CASR gene to identify activating mutations responsible for autosomal dominant hypocalcemia with Bartter-like syndrome. With 99.9% diagnostic sensitivity and ISO-accredited lab processing, you receive a definitive molecular diagnosis in 3–4 weeks.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015 Cert: INT/EGQ/2509DA/3139).
- 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 & Billing: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive NGS panel thoroughly analyses the calcium-sensing receptor (CASR) gene, detecting pathogenic variants that cause autosomal dominant hypocalcemia with Bartter syndrome features. It enables precise subclassification of the disorder, guides calcium and vitamin D management, and informs prognosis for affected individuals and their families.
The assay employs hybridization-based target enrichment followed by high-throughput sequencing on an Illumina platform, achieving >99.9% coverage of all coding exons and flanking intronic regions. Bioinformatic analysis uses population frequency databases, in silico prediction tools, and ACMG/AMP variant classification criteria to ensure clinical-grade accuracy.
| Feature | Our Test (CASR NGS) | Alternative (Sanger Single-Exon) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity across all exons | Limited to selected exons (~85% sensitivity) |
| Methodology | Next-Generation Sequencing (NGS) | Sanger Sequencing (single amplicon) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks (if multiple exons requested) |
| Sample Types Accepted | Whole Blood, Extracted DNA, One-drop Blood on FTA Card | Whole Blood only |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I recognize the profound implications of identifying a CASR pathogenic variant. This NGS assay delivers definitive molecular evidence that distinguishes autosomal dominant hypocalcemia from other calcium disorders, enabling precise, family-tailored management. A positive result is not a verdict—it is a roadmap for proactive clinical surveillance and targeted intervention.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Medication Advisory
IMPORTANT: Do not stop or alter calcium, vitamin D, or any prescribed therapy without direct consultation with your managing physician. Laboratory findings must be integrated with serum biochemistry, PTH levels, and renal function to guide safe adjustments.
🔴 Safety Exclusions & Emergency Indicators
- Exclusion Criteria: Unstable medical condition, acute infection, inability to consent, or prior adverse phlebotomy reaction.
- ER Red Flags — immediate evaluation required for: tetany, seizures, syncope, palpitations, or severe neuromuscular irritability.
Patient FAQ & Clinical Guidance
1. What is the CASR gene test and what condition does it diagnose?
This NGS test sequences the calcium-sensing receptor (CASR) gene to detect activating mutations that cause autosomal dominant hypocalcemia with Bartter syndrome features. It provides a definitive molecular diagnosis that guides calcium and vitamin D management and enables family cascade testing.
2. How should I prepare for the CASR NGS test?
No fasting is required. A blood sample is collected after genetic counselling to document the family pedigree and clinical history. Please share any prior calcium, PTH, or renal function test results with your counsellor for integrated interpretation.
3. How are my results interpreted and what actions follow?
A positive result confirms a pathogenic CASR variant, enabling your physician to optimise calcium and vitamin D supplementation and monitor renal function to prevent hypocalcemic complications. A negative result does not fully exclude other causes of hypocalcemia—clinical correlation with biochemical and radiological findings remains essential.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the UAE’s stringent data protection and healthcare regulations. All genetic and personal data are processed under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring secure storage, controlled access, and lawful processing. Health information is handled in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which mandates confidentiality and integrity of electronic medical records. Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing your rights throughout the testing pathway.
Clinical & Logistical Metadata
| Test Name | CASR Gene Hypocalcemia, Autosomal Dominant with Bartter Syndrome NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | E83.51 |
| LOINC Code | 94726-9 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 • Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE • DNA Labs UAE |
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