Test Price
2,800 AED✅ Home Collection Available
DNAJC5 Gene Genetic Test for Neuronal Ceroid Lipofuscinosis Type 4 (CLN4) in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
The DNAJC5 NGS test offers 99.9% diagnostic sensitivity for detecting pathogenic variants in the DNAJC5 gene, causing autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4). Sample collection is available via VIP mobile phlebotomy from 8 AM to 11 PM, with temperature-controlled cold-chain logistics. Post-test genetic counselling is provided telephonically by DHA-licensed genetic counsellors.
ISO 9001:2015 Certified NGS Laboratory (Cert: INT/EGQ/2509DA/3139)
Hospital‑grade cold‑chain phlebotomy, whole blood, extracted DNA, or FTA card
Telephonic interpretation support by DHA‑licensed genetic counsellors
WhatsApp verification: +971 54 548 8731
Test Overview & Methodology
The DNAJC5 NGS test utilizes next-generation sequencing (Illumina) to analyze the entire coding region and ±20 bp intronic flanking of the DNAJC5 gene. All detected variants are confirmed by Sanger sequencing. This test provides definitive molecular diagnosis for adult-onset Kufs disease (CLN4), aiding in neurological management and family risk assessment.
| Feature | Our DNAJC5 NGS Test | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | 99.9% sensitivity for full coding region ±20 bp intronic flanking | Misses deep intronic/regulatory variants; lower variant detection |
| Methodology | Next‑Generation Sequencing (Illumina) + Sanger confirmation | Sanger sequencing of selected exons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Types | Whole Blood, Extracted DNA, or One‑drop Blood on FTA Card | Whole Blood only |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasize that this test provides definitive molecular confirmation for CLN4, enabling targeted neurological care and informed family decisions. Always correlate the result with your clinical picture and comprehensive genetic counselling.”
— Lina O. Z. Quteineh, Consultant Medical Genetics, DHA ID 9294403
Advisory: Do Not Alter Prescribed Medication
Do not discontinue or modify any prescribed medication without first consulting your treating physician. Genetic test results are intended to guide clinical management, not to replace existing treatments.
Exclusion Criteria & Emergency Red Flags
- This test is not suitable for minors without legal guardian consent as per UAE regulations.
- Genetic testing cannot replace emergency neurological evaluation. If you develop acute vision loss, uncontrollable seizures, or rapid cognitive decline, seek immediate hospital care.
- Pregnancy or recent blood transfusion does not affect DNA quality, but inform the phlebotomist.
Patient FAQ & Clinical Guidance
1. What does the DNAJC5 gene test diagnose?
The DNAJC5 gene test identifies pathogenic variants causing autosomal dominant neuronal ceroid lipofuscinosis type 4, a rare progressive neurodegenerative disorder that typically presents in adulthood with movement abnormalities and cognitive decline.
2. How is the test performed, and what is the turnaround time?
A venous blood sample, extracted DNA, or a single drop of blood on an FTA card is collected by a DHA-licensed phlebotomist via VIP home collection. DNA is extracted and analysed by next‑generation sequencing, with results delivered in 3 to 4 weeks.
3. Can this test be used for family members or predictive screening?
Yes, once a familial DNAJC5 variant is identified, targeted testing is available for at‑risk relatives and for pre‑symptomatic evaluation, always accompanied by genetic counselling in accordance with UAE regulations.
UAE Regulatory & Data Privacy Adherence
This test is conducted 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. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is stored in DHA-compliant infrastructure, and laboratory accreditation is maintained under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | DNAJC5 Gene Genetic Test for Neuronal Ceroid Lipofuscinosis Type 4 (CLN4) |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card (Dried Blood Spot) |
| Methodology Used | Next-Generation Sequencing (Illumina) + Sanger Confirmation |
| ICD-10-CM Code | E75.49 |
| LOINC Code | 94400-8 |
| DHA Facility License & Laboratory Address | DHA License 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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