Test Price
2,800 AED✅ Home Collection Available
SNX10 Gene Malignant Infantile Osteopetrosis Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary: This single‑gene NGS test detects pathogenic variants in the SNX10 gene, the primary cause of autosomal recessive malignant infantile osteopetrosis. With 99.9% diagnostic sensitivity and ISO‑certified processing, results are delivered within 3–4 weeks including genetic counselling.
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–11 PM).
Clinical Guidance: Telephonic post‑test interpretation by a consultant medical geneticist.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SNX10 Genetic Test utilises Next‑Generation Sequencing (NGS) to analyse the entire coding region and flanking intronic boundaries of the SNX10 gene. This test provides definitive molecular confirmation for infants presenting with features of malignant osteopetrosis, enabling timely bone marrow transplant planning and familial screening.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity & specificity for SNX10 | High but may miss deep intronic/large deletions |
| Methodology | Next‑Generation Sequencing (full coding region) | Targeted Sanger (single‑site analysis) |
| Turnaround | 3–4 Weeks | 4–6 Weeks per region |
| Sample Requirements | 3 mL EDTA blood, FTA card, or extracted DNA | Similar; may require higher DNA concentration |
| Clinical Utility | Confirms diagnosis, guides transplant & family screening | Limited to known familial mutations |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403): "This genetic test offers an unparalleled diagnostic window into malignant infantile osteopetrosis, yet the results must be interpreted alongside hematologic and skeletal imaging findings. Early molecular diagnosis can be lifesaving, enabling timely bone marrow transplant planning. I strongly advise that no clinical decisions be made solely on this report without comprehensive multidisciplinary review."
Advisory & Safety Information
⚠ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. This test does not require fasting or medication changes.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent allogeneic bone marrow transplant may cause donor chimerism that confounds germline testing. Sample must be collected prior to transplantation or after engraftment clearance confirmed by short tandem repeat (STR) analysis.
- ER Red Flags (Seek Immediate Emergency Care):
- Rapid breathing, cyanosis, or severe respiratory distress in an infant.
- Seizures or tetany due to hypocalcemia (osteopetrosis impacts calcium metabolism).
- Unexplained pancytopenia, petechiae, or life‑threatening bleeding.
- Signs of raised intracranial pressure (bulging fontanelle, sunset eyes).
Patient FAQ & Clinical Guidance
1. What is the turnaround time for the SNX10 gene osteopetrosis test?
Direct Answer: Results are typically delivered within 3 to 4 weeks via secure online portal and telephonic guidance from our genetic counsellor.
The comprehensive NGS workflow includes DNA extraction, library preparation, sequencing, bioinformatic analysis, and clinical interpretation, all of which contribute to the 3‑4‑week timeline. Expedited reporting may be available for urgent pre‑transplant cases; contact our support team.
2. Can this test be performed on infants?
Direct Answer: Yes, this test can be performed on infants using a capillary blood spot on an FTA card, ensuring minimal discomfort and no need for venipuncture.
The FTA card method requires only a single drop of blood from a heel prick, making it ideal for neonates and small infants. The sample remains stable at room temperature during transport, fully complying with our cold‑chain logistics.
3. Do I need to fast or stop medications before giving a sample?
Direct Answer: No fasting, dietary changes, or medication adjustments are required; a simple blood draw or cheek swab can be collected at any time of day.
Genetic testing looks at your DNA, which remains unchanged by meals or drugs. However, we strongly recommend against discontinuing any prescribed treatment without your physician’s express consent. If you are taking immunosuppressants after transplantation, inform our team for optimal sample handling.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Safety
All procedures strictly adhere to 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 consent and clinical safety follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our facility holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139), ensuring quality management from sample collection to reporting.
Clinical & Logistical Metadata
| Test Name | SNX10 Gene Sequencing for Malignant Infantile Osteopetrosis |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA), FTA card, or extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | Q78.2 |
| LOINC Code | 48018-6 |
| DHA Facility License & Laboratory Address | License #1143 | DNA Labs UAE – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
Secure Your Test – Book Home Collection Today
WhatsApp +971 54 548 8731 for instant insurance verification, scheduling, or a free pre‑ genetic counselling call. Our DHA‑licensed phlebotomists are available daily from 8 AM to 11 PM across all emirates.
Start WhatsApp ChatISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | DHA Licensed Facility #1143 | Federal Decree‑Law No. 45 of 2021 (PDPL) Compliant | Reviewed by Lina Osama Zaki Quteineh, DHA 9294403
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