Test Price
2,800 AED✅ Home Collection Available
TCIRG1 Gene Autosomal Recessive Osteopetrosis Type 1 NGS Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
This advanced NGS analysis of the TCIRG1 gene provides 99.9% diagnostic sensitivity for autosomal recessive osteopetrosis type 1. The test is performed in an ISO 9001:2015 certified laboratory with rigorous quality controls. It enables carrier screening, prenatal diagnosis, and confirmation of clinical suspicion in infants with dense but fragile bones, bone marrow failure, or immune deficiency. Clinical guidance from a board-certified medical geneticist is included.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via NGS Full-Gene Sequencing with Sanger Confirmation
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM)
- Clinical Guidance: Telephonic Post-Test Clinical Interpretation by Consultant Medical Geneticist
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This comprehensive Next-Generation Sequencing (NGS) test examines the entire coding region and splice sites of the TCIRG1 gene to detect pathogenic variants responsible for autosomal recessive osteopetrosis type 1 (ARO1). The analysis uses Illumina platform technology with confirmatory Sanger sequencing, ensuring high-resolution detection of known and novel mutations. The test supports precise diagnosis, family risk assessment, and treatment planning—including evaluation for hematopoietic stem cell transplantation.
| Feature | Our Test (NGS Full‑Gene) | Closest Alternative (Single‑Site Sanger) |
|---|---|---|
| Diagnostic Precision | Entire TCIRG1 coding region & splice sites – high resolution | Limited to known familial variant; may miss novel mutations |
| Methodology | NGS (Illumina platform) with Sanger confirmation | Sanger sequencing for a single amplicon |
| Turnaround Time | 3 – 4 weeks | 2 – 4 weeks |
| Clinical Utility | Carrier screening, prenatal testing, post‑natal confirmation | Confirmation of known familial variant only |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that TCIRG1 genetic testing is a cornerstone for diagnosing autosomal recessive osteopetrosis, but results must be correlated with clinical findings such as skeletal imaging and laboratory markers. A confirmed pathogenic variant enables precise genetic counselling and informs treatment—including hematopoietic stem cell transplantation. However, no medication should be altered without specialist advice.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Guidelines
⚠️ Medication Advisory
Do not discontinue any prescribed medication without consulting your treating physician. Abrupt changes may worsen bone marrow function or lead to severe complications. Always inform your genetic counsellor and haematologist before making any therapeutic adjustments.
Exclusion Criteria & Emergency Red Flags
🚫 Exclusion Criteria
- Active systemic infection or febrile illness on the day of sample collection.
- Recent blood transfusion (within 2 weeks) – consult the lab for DNA quality impact.
- Inability to provide a blood sample (severe thrombocytopenia or venous access issues).
🚨 Emergency Red Flags
- High fever, respiratory distress, uncontrolled bleeding from puncture site – seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What is the TCIRG1 Gene Osteopetrosis Type 1 NGS Test?
A: This advanced DNA sequencing test identifies pathogenic variants in the TCIRG1 gene responsible for autosomal recessive osteopetrosis with 99.9% diagnostic sensitivity. It enables precise diagnosis, carrier testing, and family planning decisions.
2. How is the sample collected for this test in the UAE?
A: A certified phlebotomist will visit your home for a temperature-controlled cold-chain blood draw between 8 AM and 11 PM daily, using hospital-grade equipment to preserve DNA integrity for accurate NGS results.
3. When will I receive my results and how will they be delivered?
A: Detailed genetic reports are available within 3 to 4 weeks through a secure online portal, followed by a telephonic clinical interpretation session with our Consultant Medical Geneticist to guide next steps.
4. Is genetic counselling required before and after this test?
A: Yes, pre-test genetic counselling is mandatory to discuss implications, false-positive/negative chances, and potential findings. Post-test counselling is also provided to explain results and recommend management.
UAE Regulatory & Data Privacy Adherence
This service complies 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. Clinical safety and informed consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted and stored securely within the UAE.
For assistance, contact our licensed team: +971 54 548 8731 or WhatsApp. VIP mobile phlebotomy and home collection are available daily from 8 AM to 11 PM.
Clinical & Logistical Metadata
| Test Name | TCIRG1 Gene Autosomal Recessive Osteopetrosis Type 1 NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) |
| Methodology Used | NGS (Illumina) with Sanger confirmation |
| ICD-10-CM Code | Q78.2 (Osteopetrosis) |
| LOINC Code | 88857-4 (TCIRG1 gene mutation analysis) |
| 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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