Test Price
2,800 AED✅ Home Collection Available
CYP24A1 Gene Hypercalcemia Infantile Type Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO 15189:2012 Accredited Next‑Generation Sequencing. VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM). Complimentary post‑test teleconsultation with a Consultant Medical Geneticist for clinical correlation. Direct insurance billing verification via WhatsApp: +971 54 548 8731.
Turnaround Time: 3 to 4 Weeks from sample receipt. Specimen: Peripheral whole blood (3-5 mL EDTA) collected by trained paediatric phlebotomists.
Test Overview & Methodology
The CYP24A1 gene encodes vitamin D 24‑hydroxylase, the enzyme responsible for catabolising active vitamin D. Pathogenic variants in CYP24A1 disrupt this catabolic pathway, leading to accumulation of 1,25‑dihydroxyvitamin D and severe infantile hypercalcemia. This comprehensive genetic test utilises Next‑Generation Sequencing (NGS) to analyse all coding exons and flanking intronic regions of the CYP24A1 gene, providing a definitive molecular diagnosis. Early genetic confirmation enables targeted dietary management, pharmacologic intervention with agents such as fluconazole or ketoconazole, and informed reproductive counselling for at‑risk families.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Method | Next‑Generation Sequencing (full gene coding regions + splice sites) | Sanger sequencing (single‑exon targeted) or biochemical vitamin D metabolite panel |
| Turnaround Time | 3‑4 Weeks | 4‑5 Weeks (Sanger) / 1‑2 Weeks (biochemical, non‑diagnostic) |
| Diagnostic Yield | Greater than 99% for coding and splice‑site variants | Limited to targeted exons (Sanger) / non‑genetic, indirect assessment (biochemical) |
| Sample Requirement | 3‑5 mL peripheral whole blood in EDTA tube | 5‑10 mL blood (Sanger) / serum or plasma (biochemical) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), shares: “Infantile hypercalcemia caused by CYP24A1 deficiency is a rare but clinically significant condition that demands precise molecular confirmation. This NGS‑based test provides the diagnostic clarity needed to initiate appropriate therapy. However, genetic results must always be interpreted alongside the infant’s clinical presentation, growth parameters, and family history. I strongly recommend pre‑ and post‑test genetic counselling to ensure families fully understand the inheritance pattern and potential implications for future pregnancies.”
Do not discontinue or adjust prescribed medications without consulting your treating physician. Genetic findings inform long‑term management but do not replace immediate medical supervision for acute hypercalcemia.
Advisory & Medication Safety
Patients and caregivers must maintain all prescribed treatments until explicit guidance is received from the managing clinician. Genetic test results may influence future therapeutic decisions but should never be used as a basis for altering current medication regimens without direct medical consultation. Inform the laboratory if the infant is receiving any vitamin D supplements, calcium‑based therapies, or thiazide diuretics, as these may affect biochemical parameters and require correlation with genetic findings.
Exclusion Criteria & Emergency Red Flags
- Active fever, systemic infection, or known coagulopathy at the time of blood draw – contact our team to reschedule the collection.
- Known haematoma or vascular access difficulty may require a specialist paediatric phlebotomist or hospital‑based collection.
- Emergency warning: If the infant develops severe dehydration, intractable vomiting, lethargy, seizures, altered consciousness, or cardiac arrhythmias, seek immediate emergency medical care regardless of pending test results. Genetic testing does not replace acute clinical management.
Patient FAQ & Clinical Guidance
1. What does this genetic test detect?
This NGS‑based test identifies pathogenic variants in the CYP24A1 gene that cause infantile hypercalcemia type 1. It reads every coding nucleotide and exon‑intron boundary of the gene, revealing mutations that impair vitamin D breakdown and lead to dangerously elevated blood calcium levels in infancy. The result enables a definitive diagnosis, which is essential for guiding dietary interventions (low‑calcium, low‑vitamin D formula) and pharmacologic therapy.
2. How long will it take to receive the results?
Results are reported within 3 to 4 weeks from sample receipt via a secure online portal, with an optional telephonic consultation from the Consultant Medical Geneticist. The timeline includes DNA extraction, library preparation, full NGS sequencing, bioinformatic analysis, and clinical interpretation by a board‑certified geneticist. Urgent preliminary findings can be communicated earlier if clinically indicated and requested by the referring physician.
3. Is home blood collection available for infants in Dubai?
Yes. Our ISO‑certified, temperature‑controlled mobile phlebotomy service covers all UAE emirates daily from 8 AM to 11 PM, ensuring sample integrity from collection to laboratory delivery. Paediatric phlebotomists use gentle venipuncture or heel‑prick techniques appropriate for infants. The sample is transported in validated cold‑chain containers directly to the DNA Labs UAE processing facility in Dubai Healthcare City.
4. What happens after the test if a genetic variant is found?
If a pathogenic or likely pathogenic variant is identified, the Consultant Medical Geneticist will discuss the results during a complimentary post‑test teleconsultation. The discussion will cover clinical implications, inheritance pattern, recommended follow‑up for the infant, and reproductive options for the family. A confirmatory biochemical profile including serum calcium, phosphate, parathyroid hormone, and 1,25‑dihydroxyvitamin D levels is recommended to correlate with the genetic finding.
UAE Regulatory & Data Privacy Adherence
Comprehensive Legal Compliance: All genetic testing services at DNA Labs UAE operate under the strict oversight of the Dubai Health Authority (DHA Facility License Number: 1143). Data security and patient privacy are governed by 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 procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Genetic testing of minors is performed only after documented informed consent from a parent or legal guardian, accompanied by pre‑test genetic counselling. All personal genomic data is encrypted, access‑controlled, and stored within secure UAE‑based servers. Results are disclosed only to the ordering physician and the patient or legal guardian.
For insurance coverage verification or billing inquiries, contact our team via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | CYP24A1 Gene Hypercalcemia Infantile Type Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3-5 mL EDTA) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection |
| Methodology Used | Next‑Generation Sequencing (NGS) – whole gene coding regions and splice sites |
| ICD-10-CM Code | E83.52 |
| LOINC Code | 94868-5 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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