Test Price
2,800 AED✅ Home Collection Available
CPT1A Gene (Carnitine Palmitoyltransferase 1A Deficiency) Genetic Test in UAE
Executive Summary & Core Metrics
✓ Accuracy Guarantee: 99.9% diagnostic sensitivity across the full CPT1A coding region via ISO 9001:2015 accredited NGS processing.
✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM.
✓ Clinical Guidance: Telephonic post-test consultation with a Consultant Medical Genetics for result interpretation and familial risk counselling.
✓ Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731; self-pay price 2,800 AED.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) assay analyzes the CPT1A gene encoding carnitine palmitoyltransferase 1A, a key enzyme in long‑chain fatty acid oxidation. Pathogenic variants in CPT1A cause carnitine palmitoyltransferase 1A deficiency, an autosomal recessive disorder that can present with hypoketotic hypoglycaemia, hepatic encephalopathy, cardiomyopathy, and sudden metabolic crises during fasting or illness. The test captures single‑nucleotide variants, small insertions/deletions, and splice‑site alterations across all coding exons and flanking intronic regions. Interpretation follows ACMG/AMP guidelines and is correlated with the patient’s clinical phenotype and family history.
A mandatory pre‑test genetic counselling session is conducted to construct a detailed three‑generation pedigree, document prior metabolic episodes, and discuss the implications of possible results including carrier status and incidental findings. No fasting is required for blood collection; patients should maintain usual diet and hydration. Individuals on anticoagulant therapy should inform the phlebotomist prior to venipuncture.
| Feature | Our Test | Closest Alternative (Sanger) |
|---|---|---|
| Precision | 99.9% variant detection across full coding region | Limited to a few exons; deep intronic variants missed |
| Methodology | Next‑Generation Sequencing (massively parallel) | Chain‑termination (single‑gene scale) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2,800 AED | ~3,500 AED |
Physician Insight & Safety Protocols
“Targeted NGS of the CPT1A gene offers a definitive molecular diagnosis for families confronting unexplained metabolic decompensation episodes. Yet a positive result must never be interpreted in isolation—it demands integration with biochemical profiling, cardiac assessment, and dietary management to prevent life‑threatening crises. Our practice ensures that every report is reviewed by a consultant clinical geneticist before issuance.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Safety
Important Caution
Do not discontinue or adjust prescribed metabolic therapies, anticonvulsants, or cardiac medications without direct consultation with your treating physician. Genetic test results are ancillary to acute clinical management and do not replace emergency intervention for metabolic decompensation.
Exclusion Criteria & Emergency Red Flags
- Acute metabolic decompensation (vomiting, lethargy, hypoglycaemia, seizures) requires immediate emergency department evaluation—elective genetic testing must be deferred.
- Chest pain, severe abdominal pain, or altered consciousness contraindicate home phlebotomy; call 998 for ambulance services without delay.
- New‑onset cardiomyopathy, hyperammonemia, or uncontrolled arrhythmias mandate urgent clinical stabilization before any genetic investigation.
Patient FAQ & Clinical Guidance
1. What is the CPT1A gene test and why is it performed?
This NGS analysis identifies pathogenic variants in the CPT1A gene responsible for carnitine palmitoyltransferase 1A deficiency, a serious fatty acid oxidation disorder. It is indicated for individuals with unexplained hypoketotic hypoglycaemia, recurrent metabolic crises, cardiomyopathy, or a positive family history of CPT1A deficiency. The test also informs carrier screening and reproductive planning for at‑risk relatives.
2. How is the sample collected and what is the turnaround time?
A certified phlebotomist visits your home between 8 AM and 11 PM to collect a small volume of whole blood (2–5 mL in EDTA). Alternatively, a buccal swab or extracted DNA on an FTA card may be provided. Samples are transported under ISO‑certified temperature‑controlled cold chain. NGS analysis, bioinformatic processing, and clinical interpretation require 3–4 weeks from sample receipt.
3. Is the test painful or risky for children and infants?
The blood draw uses a fine‑gauge needle, produces a brief pinch sensation, and is performed by paediatric‑trained phlebotomists. A buccal swab option is entirely non‑invasive and painless. No sedation is required. The procedure is safe for all ages, including neonates, provided the child is medically stable.
4. What should I discuss with my genetic counsellor before the test?
Your mandatory pre‑test counselling session will cover: the pattern of inheritance, potential outcomes (pathogenic, benign, or variant of uncertain significance), implications for family members, disclosure of incidental findings, and the psychological impact of carrier or affected status. A detailed pedigree of at least three generations will be constructed.
UAE Regulatory & Data Privacy Adherence
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and personal data are processed, stored, and transmitted under strict anonymization and access control protocols in compliance with UAE data privacy legislation.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records, laboratory information systems, and tele‑counselling platforms meet the mandated security and interoperability standards.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability: Patient consent, pre‑test counselling, and post‑test disclosure follow the UAE medical liability framework ensuring informed decision‑making and professional accountability.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – guaranteeing international quality management across all laboratory processes.
Clinical & Logistical Metadata
| Test Name | CPT1A Gene (Carnitine Palmitoyltransferase 1A Deficiency) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, or DNA on FTA Card; VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) – Massively Parallel Sequencing covering full coding region and flanking intronic junctions |
| ICD‑10‑CM Code | E71.314 |
| LOINC Code | 94706-2 |
| DHA Facility License & Address | License No. 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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