Test Price
2,800 AED✅ Home Collection Available
CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM–11 PM.
- Clinical Guidance: Telephonic post-test interpretation session with a clinical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This test utilises Next-Generation Sequencing (NGS) to analyse the CLCN7 gene for pathogenic variants associated with autosomal recessive osteopetrosis type 4. Early molecular diagnosis enables timely intervention including hematopoietic stem cell transplantation and management of skeletal, hematologic, and neurologic complications. The assay covers all coding exons and intron-exon boundaries with >99% sensitivity for single nucleotide variants and small indels.
| Test Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Sensitivity | >99% for whole coding region and intron-exon boundaries | ~95% for known coding mutations; misses deep intronic variants |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Variant Detection | Single nucleotide variants, small indels, copy number changes (with specialised analysis) | Primarily point mutations and small indels; limited coverage for large deletions |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasise the importance of a definitive molecular diagnosis for autosomal recessive osteopetrosis. This NGS-based test provides comprehensive analysis of the CLCN7 gene, enabling accurate risk assessment and guiding therapeutic decisions. Correlation with clinical and radiological findings is essential for optimal management.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Medication Advisory
Do not discontinue or alter any prescribed medications without consulting your treating physician. Genetic test results may influence therapeutic decisions, but medication changes must be supervised by a qualified healthcare professional.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Allogeneic bone marrow transplant within 12 weeks (donor chimerism may confound germline results); active systemic infection with high fever; inability to provide informed consent.
- Emergency Red Flags (seek immediate medical attention): Sudden vision loss, new-onset seizures, severe bone pain unresponsive to usual analgesia, shortness of breath, or profound pallor/bleeding suggesting bone marrow failure.
Patient FAQ & Clinical Guidance
1. What is the CLCN7 gene osteopetrosis test, and how does it help?
This test uses NGS to detect pathogenic mutations in the CLCN7 gene causing autosomal recessive osteopetrosis type 4. Identifying the molecular cause enables early diagnosis, guides treatment options such as hematopoietic stem cell transplantation, and provides accurate carrier testing for family planning. A positive result should always be discussed with a clinical geneticist.
2. How should I prepare for the blood sample collection?
No fasting is required. You must complete a mandatory genetic counselling session to provide detailed family history and draw a pedigree chart. The sample can be whole blood, extracted DNA, or one drop on an FTA card. Our ISO-certified home collection team uses temperature-controlled cold-chain transport and is available daily from 8 AM to 11 PM.
3. What do I do if my result is positive?
A positive result necessitates immediate consultation with a hematologist and clinical geneticist for treatment planning and family screening. You will receive a telephonic clinical guidance session to interpret findings. Based on the mutation, referral to a paediatric bone marrow transplant centre and orthopaedic surgeon may be recommended. Do not act on the result without professional genetic counselling.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in full compliance with UAE health data protection and clinical safety regulations. All personal data is processed under 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 testing safety and informed consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds DHA Facility License No. 1143 and is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q78.2 |
| LOINC Code | 91457-4 |
| DHA Facility License & Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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