Test Price
2,800 AEDโ Home Collection Available
CPT2 Gene (Carnitine Palmitoyltransferase 2 Deficiency) Infantile Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO Accredited Processing.
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 in result interpretation.
Insurance
Direct Billing Verification via WhatsApp +971 54 548 8731.
Laboratory Oversight
DNA Labs UAE โ DHA Facility License 1143, Dubai Healthcare City.
Test Cost
2,800 AED (All inclusive of NGS analysis and clinical report).
Regulatory Compliance
Federal Decree-Law No. 45 of 2021 (PDPL) & Federal Law No. 2 of 2019.
Patient Consent
Informed consent obtained per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Test Overview & Methodology
The CPT2 Gene Genetic Test on blood or FTA cards delivers 99.9% accuracy using next-generation sequencing (NGS) within 3โ4 weeks, enabling early intervention and family planning. Full gene coverage ensures detection of known and novel pathogenic variants associated with infantile Carnitine Palmitoyltransferase 2 Deficiency, a severe metabolic disorder requiring prompt diagnosis.
| Feature | Our Test (NGS) | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) โ full gene coverage | Targeted mutation panel or Sanger sequencing |
| Precision | >99.9% sensitivity for known & novel variants | Limited to pre-specified mutations |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Sample Options | Blood, Extracted DNA, One Drop Blood on FTA Card | Typically only EDTA blood |
| Clinical Interpretation | Includes ACMG classification & genetic counselling referral | Often report-only without integrated guidance |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics specialist, I strongly recommend this comprehensive NGS analysis for any infant presenting with unexplained hypoglycemia, cardiomyopathy, or metabolic crisis. The test provides definitive molecular confirmation of CPT2 deficiency, allowing tailored dietary management and emergency planning. However, results must always be correlated with biochemical markers and clinical presentation. Do not alter any current treatments without consulting your child's specialist.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or modify prescribed medication without consulting your doctor. Genetic test results are intended to inform clinical management, not to replace existing treatment protocols.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Acute hemolysis or degraded sample
- Inadequate sample volume (less than 1 ยตL for FTA card)
- Inability to provide informed consent by legal guardian
- Active infection that could compromise DNA quality
ER Red Flags โ Seek Immediate Medical Attention
- Sudden lethargy, unresponsiveness, or coma
- Hypoketotic hypoglycemia (seizures, sweating, pallor)
- Cardiomyopathy symptoms (rapid breathing, poor feeding, cyanosis)
- Acute respiratory distress or metabolic acidosis
Patient FAQ & Clinical Guidance
1. What does a positive CPT2 gene test mean for my infant?
A positive CPT2 gene NGS test confirms the presence of pathogenic mutations causing CPT2 deficiency, necessitating immediate metabolic management to prevent life-threatening crises. This means your child has inherited a genetic defect in fatty acid oxidation, requiring strict dietary precautions and emergency protocols. You will be referred to a metabolic specialist for a personalised care plan.
2. How is home collection performed for infant NGS testing?
Our hospital-grade home collection uses a paediatric-trained phlebotomist and temperature-controlled cold-chain transport for FTA card or blood samples, ensuring sample integrity from collection to lab. A sterile heel prick yields a few drops of blood, immediately applied to a preservation card. The entire process is gentle, rapid, and compliant with international transport standards. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM.
3. What is the turnaround time and how do I receive results?
Turnaround time is 3โ4 weeks, with secure encrypted PDF reports sent directly to your ordering physician for clinical interpretation and genetic counselling. Your doctor will then schedule a follow-up consultation to discuss the findings and next steps. A copy can be provided to you upon request, accompanied by a genetic counselling session with our genetics team.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates 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. All genetic data is encrypted in transit and at rest; patient confidentiality is strictly maintained. Informed consent is obtained from the legal guardian in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License 1143 and adheres to ISO 15189 standards for medical laboratory quality and competence.
Clinical & Logistical Metadata
| Test Name | CPT2 Gene (Carnitine Palmitoyltransferase 2 Deficiency) Infantile Genetic Test โ NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coverage with ACMG Variant Classification |
| ICD-10-CM Code | E71.314 (Infantile Carnitine Palmitoyltransferase 2 Deficiency) |
| LOINC Code | 82184-2 (CPT2 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians