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Test Price

2,800 AED

✅ Home Collection Available

CLCN7 Gene Osteopetrosis, Autosomal Dominant Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Certified NGS Processing.

Premium Logistics: Paid Hospital‑Grade Home Collection via ISO Certified Cold‑Chain Home Collection & VIP Mobile Phlebotomy.

Clinical Guidance: Telephonic Post‑Test Clinical Guidance in Result Interpretation.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

This advanced genetic test utilises next‑generation sequencing (NGS) to deliver definitive molecular diagnosis of autosomal dominant osteopetrosis type 1 caused by mutations in the CLCN7 gene. The service is offered across the UAE under DHA regulatory oversight, with full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).

Test Overview & Methodology

The CLCN7 Gene Osteopetrosis NGS Test detects pathogenic variants in the CLCN7 gene with 99.9% diagnostic sensitivity using next‑generation sequencing, providing a definitive molecular diagnosis for autosomal dominant osteopetrosis type 1. Full gene coverage includes all coding exons, splice sites, and deep intronic regions relevant to the phenotype.

Feature Our Test (NGS) Closest Alternative
Precision 99.9% Sensitivity, full gene coverage Lower resolution, may miss deep intronic variants
Method Next‑Generation Sequencing (Illumina®‑based) Sanger sequencing (single‑exon focus)
Turnaround Time 3‑4 Weeks 6‑8 Weeks

Physician Insight & Safety Protocols

“Interpreting a CLCN7 mutation requires correlation with clinical symptoms, family history, and bone density imaging. This test offers high diagnostic clarity for autosomal dominant osteopetrosis type 1 and supports informed family planning decisions. However, positive results must be contextualised within a comprehensive clinical evaluation by a qualified genetic specialist.” — Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403

Medication Advisory

⚠ Do not discontinue prescribed medication without consulting your doctor. Genetic test results may influence therapy choices, but abrupt cessation can be hazardous.

Exclusion Criteria & Red Flags

Contraindications Requiring Immediate Medical Attention

  • Sample unsuitability: Hemolyzed blood, insufficient DNA yield (<50 ng), or improper FTA card drying.
  • Variant of uncertain significance (VUS): May require additional family studies; not actionable alone.
  • Urgent ER signs: Sudden vision loss, hearing impairment, or pathological fractures – seek immediate hospital care regardless of test status.
  • Pregnancy/Lactation: Genetic test result interpretation must be discussed with a maternal‑fetal medicine specialist.

Patient FAQ & Clinical Guidance

1. What is the accuracy of the CLCN7 gene test for confirming osteopetrosis, and can it be used for family screening?

The test provides 99.9% diagnostic sensitivity for CLCN7 mutations, making it highly reliable for confirming autosomal dominant osteopetrosis type 1 and guiding targeted family cascade testing. A mandatory pre‑test genetic counselling session is required to draw a pedigree chart of affected family members before sample collection.

2. What type of sample is required and how is home collection performed in the UAE?

You may provide a peripheral whole blood sample, extracted DNA, or a dried blood spot on an FTA card. Collection is performed by our DHA‑licensed phlebotomists via VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM.

3. Is this test covered by health insurance, and what does the 2800 AED price include?

The 2800 AED fee covers full NGS analysis, pre‑test genetic counselling, and a detailed clinical report. Direct billing verification is available for most major UAE insurers via WhatsApp +971 54 548 8731.

UAE Regulatory & Data Privacy Adherence

This diagnostic service operates in full compliance 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. All genetic data is encrypted, access‑controlled, and processed exclusively within DHA‑licensed facilities. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name CLCN7 Gene Osteopetrosis, Autosomal Dominant Type 1 Genetic Test (NGS)
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral Whole Blood, Extracted DNA, or FTA Card Dried Blood Spot
Methodology Used Next‑Generation Sequencing (Illumina®‑based), Full Gene Coverage
ICD-10-CM Code Q78.2
LOINC Code 21660-9
DHA Facility License & Laboratory Address DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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