Test Price
2,800 AED✅ Home Collection Available
CASR Gene Sequencing for Neonatal Severe Hyperparathyroidism – Genetic Test in Dubai & UAE
Executive Summary & Core Metrics
- 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, all Emirates).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation by a DHA‑licensed genetic specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing test analyzes the entire CASR gene to detect pathogenic mutations responsible for neonatal severe primary hyperparathyroidism (NSHPT), a critical calcium metabolic crisis in newborns. The test provides >99% coverage of all coding regions and splice sites, enabling definitive genetic diagnosis to guide timely surgical or medical intervention.
| Feature | Our Test (NGS Panel) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Next‑Generation Sequencing (NGS) | Sanger Sequencing (targeted exons only) |
| Diagnostic Yield | >99% coverage of all coding regions & splice sites | ~60‑70% when limited to known hotspots |
| Turnaround Time | 3‑4 weeks (expedited available) | 2‑4 weeks (may require reflex to NGS) |
| Price (AED) | 2,800 | Varies (often higher cumulative cost) |
Physician Insight & Safety Protocols
“In neonatal intensive care, rapid genetic confirmation of CASR mutations is critical for deciding between medical stabilization and parathyroidectomy. However, no test should replace continuous clinical monitoring. Always correlate results with serum calcium, PTH, and urinary calcium levels before making treatment changes.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication & Safety Warning
Do not discontinue prescribed calcium‑lowering medications without consulting your treating specialist. Abrupt changes can precipitate life‑threatening arrhythmias.
- Exclusion Criteria: Recent blood transfusion (< 2 weeks), insufficient nucleated cells in cord blood, degraded DNA sample, unverified at‑home FTA card collection.
- Emergency Red Flags (seek immediate medical care):
- Seizures, tetany, or altered consciousness in the newborn
- Severe dehydration, refusal to feed, or projectile vomiting
- Bradycardia, arrhythmia, or respiratory distress
- Serum calcium > 14 mg/dL or symptomatic hypocalcemia after therapy
Test Limitations & Precautionary Notes
This NGS test may not detect deep intronic variants, large deletions/duplications beyond NGS resolution, or somatic mosaicism. Confirmatory biochemical and radiological evaluation remains essential. Genetic counselling for family planning is recommended after a positive result.
Patient FAQ & Clinical Guidance
1. What does a positive CASR genetic test mean for my newborn?
This test confirms a definitive genetic cause for neonatal severe hyperparathyroidism, guiding curative parathyroid surgery decisions. A positive result indicates homozygous or compound heterozygous mutations in the CASR gene, which explains the uncontrolled hypercalcemia. This information helps the medical team plan a total parathyroidectomy or calcium‑sensing receptor‑targeted therapy. Genetic counselling for family planning is recommended.
2. How is the sample collected safely from a newborn?
A one‑drop blood sample on an FTA card or a small venous draw is performed by our certified neonatal phlebotomists. Our VIP home collection team uses micro‑volume techniques suitable for critically ill infants, strictly following cold‑chain protocols. Parents can also provide a cord blood sample at delivery. The sample is transported at controlled temperature and processed within 24 hours to maintain DNA integrity.
3. Does this test require genetic counselling, and is it covered by insurance?
A pre‑ and post‑test genetic counselling session is included, and we provide direct billing support for major UAE insurers. Before testing, a certified genetic counsellor will draw a detailed pedigree, explain inheritance patterns (autosomal recessive), and discuss potential outcomes. Most UAE health insurance plans cover medically necessary neonatal genetic testing; our team verifies your coverage upfront via WhatsApp (+971545488731) and handles the claims process.
UAE Regulatory & Data Privacy Adherence
This clinical service complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – Data Privacy & Consent Management
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Health Data Protection Frameworks
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Clinical Testing Safety & Patient Consent
- ISO 9001:2015 Quality Management System (Cert: INT/EGQ/2509DA/3139)
Clinical & Logistical Metadata
| Test Name | CASR Gene Sequencing for Neonatal Severe Hyperparathyroidism |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks (Expedited Available) |
| Sample Type / Matrix | Whole Blood (Peripheral) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Whole Gene Sequencing |
| ICD-10-CM Code | E21.0 |
| LOINC Code | 51966-2 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians