Test Price
2,800 AED✅ Home Collection Available
PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 (CLN1) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This PPT1 gene NGS test delivers >99.9% diagnostic sensitivity for pathogenic variants causing Infantile Neuronal Ceroid Lipofuscinosis (CLN1). The all‑inclusive 2800 AED package covers ISO 9001:2015‑certified cold‑chain home blood collection (8 AM–11 PM), rapid 3–4 week turnaround, and expert post‑test genetic counselling. Direct insurance billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PPT1 Genetic Test analyses the entire coding region of the PPT1 gene using high‑depth Next‑Generation Sequencing, detecting single nucleotide variants, small insertions/deletions, and splice‑site mutations associated with Neuronal Ceroid Lipofuscinosis type 1. This ultra‑rare lysosomal storage disorder presents in infancy with rapid psychomotor regression, seizures, and blindness; early molecular confirmation enables precise diagnosis, carrier testing, and informed family planning.
| Feature | Our PPT1 NGS Test | Closest Alternative (Single‑Exon Sanger) |
|---|---|---|
| Methodology | Full‑Gene NGS with >100× coverage | Exon‑by‑exon Sanger sequencing |
| Variant Detection | SNVs, indels, splice sites (all exons) | Only known hotspot exons |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Sensitivity | >99.9% for coding variants | ~85% (misses deep intronic/regulatory) |
| Price (UAE) | 2800 AED (All Inclusive) | 2500–3000 AED (lab only) |
Physician Insight & Safety Protocols
“The PPT1 genetic test provides precise molecular confirmation for CLN1, but clinical correlation with neuroimaging, enzyme assays, and a thorough pedigree is essential. A negative result does not exclude other NCL subtypes; further diagnostic workup may be warranted. Never stop or alter medications without direct physician guidance.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Medication Advisory
⚠️ Do not discontinue, adjust, or initiate any medication based on this test without explicit consultation with your treating physician. Antiepileptic drugs and supportive therapies are critical in CLN1 management.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients with acute febrile illness (>38.5°C) or active systemic infection – reschedule blood collection once afebrile.
- Exclusion: Individuals with severe coagulopathy (INR >2.0, platelets <50,000/µL) who cannot safely provide venipuncture sample.
- Minors: Mandatory written parental/legal guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability; genetic counselling session must precede sampling.
- Emergency: If sudden onset of status epilepticus, respiratory arrest, or loss of consciousness occurs, call 998 immediately – do not wait for test results.
Patient FAQ & Clinical Guidance
1. What does the PPT1 gene test detect, and why is it important?
This NGS assay detects pathogenic DNA variants in the PPT1 gene, which encodes palmitoyl‑protein thioesterase‑1; a deficiency causes infantile neuronal ceroid lipofuscinosis (CLN1), a rapidly progressive neurodegenerative disorder.
2. Who should consider undergoing this test in the UAE?
Infants with unexplained psychomotor regression, seizures, and visual loss, or families with a known history of CLN1/NCL should pursue this; carrier screening is also advised for at-risk relatives and couples planning pregnancy.
3. What are the next steps if a positive (pathogenic) result is found?
Genetic counselling with a specialist (Neurologist or Clinical Geneticist) is mandatory; confirmatory enzyme activity testing can be arranged, followed by multidisciplinary management focusing on seizure control, nutritional support, and palliative care planning.
📞 Immediate Support & Booking: WhatsApp +971 54 548 8731. Home collection phlebotomists available 8 AM – 11 PM across all Emirates.
UAE Regulatory & Data Privacy Adherence
This test complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing sensitive genetic data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for health data handling. Our laboratory holds ISO 9001:2015 Certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License 1143, ensuring strict quality management and data confidentiality.
Clinical & Logistical Metadata
| Test Name | PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 (CLN1) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full‑gene coding region with >100× depth |
| ICD-10-CM Code | E75.4 |
| LOINC Code | 76771-7 |
| DHA Facility License & Laboratory Address | DHA License: 1143 — DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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