Test Price
2,800 AED✅ Home Collection Available
PLEKHM1 Gene Osteopetrosis, Autosomal Recessive Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This next-generation sequencing (NGS) test comprehensively analyzes the PLEKHM1 gene for mutations linked to autosomal recessive osteopetrosis type 6, a rare sclerosing bone disorder. It delivers definitive molecular diagnosis, enabling precise clinical management, family planning, and genetic counselling for UAE patients under DHA standards.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance by DHA-licensed genetics experts.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The test uses next-generation sequencing (NGS) to analyze all coding exons and splice sites of the PLEKHM1 gene, providing full gene coverage. This method delivers over 99.9% analytical sensitivity and specificity, far exceeding targeted Sanger sequencing.
| Feature | Our Test | Closest Alternative Method |
|---|---|---|
| Precision (Analytical Sensitivity) | >99.9% via full gene coverage NGS | ~95% via targeted Sanger sequencing (limited to known hotspots) |
| Methodology | NGS – all coding exons & splice sites | Conventional PCR + Sanger (partial gene) |
| Turnaround Time | 3 to 4 Weeks | 4 – 6 Weeks |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | May vary; not routinely ISO-certified |
Physician Insight & Safety Protocols
“As a Consultant in Medical Genetics, I confirm that this NGS test provides high diagnostic accuracy for autosomal recessive osteopetrosis type 6. However, the results must always be correlated with clinical findings and imaging studies. This test is not a substitute for emergency care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Reg. 9294403
Safety Advisory
Do not discontinue prescribed medication without consulting your doctor. This test is for diagnostic purposes only and does not replace emergency medical attention.
Exclusion Criteria & Red Flags
- Not suitable for emergency diagnosis of acute bone fractures or severe anaemia; seek immediate medical attention.
- Testing of minors requires explicit parental/guardian consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Red Flag: Sudden vision/hearing loss, progressive limb deformity, or uncontrolled bleeding infection → proceed to emergency department before sample collection.
Patient FAQ & Clinical Guidance
1. What is the PLEKHM1 gene osteopetrosis type 6 NGS test?
This NGS test analyzes the PLEKHM1 gene for mutations causing autosomal recessive osteopetrosis type 6, providing definitive diagnosis and guiding clinical management.
2. How accurate is this genetic test?
The NGS-based PLEKHM1 gene test delivers over 99.9% analytical sensitivity and specificity, validated in ISO 9001:2015 certified laboratories.
3. What sample is required and what is the turnaround time?
A simple blood sample, extracted DNA, or a drop of blood on an FTA card suffices, with results in 3 to 4 weeks.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143. All genetic data is handled in strict 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. Clinical testing and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory premises are located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | PLEKHM1 Gene Osteopetrosis, Autosomal Recessive Type 6 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or FTA card. Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM). |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene coverage including coding exons and splice sites |
| ICD-10-CM Code | Q78.2 (Osteopetrosis) |
| LOINC Code | 81409-7 |
| DHA Facility License & Laboratory Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians