Test Price
2,800 AED✅ Home Collection Available
CLPB Gene (3-Methylglutaconic Aciduria Type 7) with Cataracts, Neurologic Involvement and Neutropenia – Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 & ISO 9001:2015 Certified Processing.
- Premium Logistics: Hospital-Grade Home Collection via ISO-Certified Cold-Chain Transport & VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance with a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The CLPB gene Next-Generation Sequencing (NGS) test detects pathogenic and likely pathogenic variants associated with 3-methylglutaconic aciduria type 7 (MGCA7), a rare autosomal recessive multisystem disorder characterized by early-onset cataracts, progressive neurologic deterioration, and severe congenital neutropenia. This test provides a definitive molecular diagnosis, enabling targeted clinical management including timely cataract surgery, G-CSF therapy, and genetic counseling for at-risk family members.
| Feature | DNA Labs UAE (DHA-Licensed) | Typical Alternative Provider |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with full CLPB gene coverage, deletion/duplication analysis & Sanger validation | Single-gene Sanger sequencing (limited coverage, no CNV detection) |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Diagnostic Precision | 99.9% Analytical Sensitivity & Specificity (ISO-Certified) | ~95% (Sanger only) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics at DNA Labs UAE, I strongly recommend that this CLPB NGS test be interpreted strictly within the full clinical context, including metabolic profiles and ophthalmologic evaluation. A negative result does not exclude MGCA7 if clinical suspicion is high. Pre- and post-test genetic counseling is mandatory for all families. Your managing metabolic specialist remains your primary guide for treatment decisions.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
⚠️ Important Clinical Guideline
Do not discontinue or adjust any prescribed medication, particularly granulocyte colony-stimulating factor (G-CSF) or other neutropenia management therapies, without consulting your treating specialist. This genetic test provides diagnostic insights and does not replace urgent clinical decision-making or emergency care protocols.
Exclusion Criteria & Emergency Red Flags
- Acute Febrile Neutropenia: Patients with an absolute neutrophil count (ANC) < 0.5 × 10⁹/L require immediate emergency medical care, not elective genetic testing.
- Uncontrolled Seizure Activity or Acute Encephalopathy: Clinical stabilization must be prioritized before sample collection for genetic analysis.
- Known Anaphylaxis to Venipuncture Materials: If a blood draw is contraindicated, please contact our lab to arrange an FTA card or saliva-based collection kit.
- Urgent Transplant Workup: If results are needed for an urgent hematopoietic stem cell transplant (HSCT) evaluation, please contact the lab for expedited processing (additional charges may apply).
Patient FAQ & Clinical Guidance
1. What does the CLPB gene test detect, and why is it important for my child?
This NGS assay identifies disease-causing mutations in the CLPB gene responsible for 3-methylglutaconic aciduria type 7 (MGCA7), a condition marked by early cataracts, progressive neurologic disability, and severe neutropenia. Early diagnosis enables timely cataract surgery, granulocyte colony-stimulating factor (G-CSF) therapy if indicated, and preventive neurological care, significantly improving quality of life and reducing hospitalizations for febrile neutropenia.
2. How is the sample collected, and is it painful for my baby?
We offer a virtually painless option: a single drop of blood on an FTA card, collected by a trained pediatric phlebotomist during a scheduled home visit. For older patients, a standard venipuncture (2 mL whole blood in EDTA) or an extracted DNA sample from saliva is also accepted. All procedures strictly adhere to DHA pediatric comfort and safety protocols.
3. Will my health insurance cover this genetic test in the UAE?
Most UAE-based insurance plans, including those under Thiqa and Daman, may cover genetic testing for suspected hereditary metabolic disorders when pre-authorized with a valid referral from a DHA-licensed specialist. Our team will verify your eligibility and handle direct billing. Please send a copy of your insurance card and referral via WhatsApp at +971 54 548 8731 for a coverage check.
UAE Regulatory & Data Privacy Adherence
🔒 Your Data is Protected Under UAE Law
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is classified as sensitive personal data. We implement strict access controls, encryption, and processing limitations in full compliance with the PDPL.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health infrastructure, including electronic medical records and telemedicine platforms, adheres to the highest standards of cybersecurity and data confidentiality mandated by the UAE government.
- DHA Licensing & ISO Certification: DNA Labs UAE operates under DHA Facility License Number 1143 and maintains ISO 15189:2022 (Medical Laboratories) and ISO 9001:2015 (Quality Management) certifications, ensuring the highest global standards of laboratory accuracy and data integrity.
Clinical & Logistical Metadata
| Test Name | CLPB Gene Sequencing & Deletion/Duplication Analysis (NGS) |
| Price (AED) | 2,800.00 AED |
| Turnaround Time | 21 – 28 Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA), FTA Card, or Extracted DNA (Saliva acceptable) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Validation |
| ICD-10-CM Code | E71.19 |
| LOINC Code | 94051-1 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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