Test Price
2,800 AED✅ Home Collection Available
CPT2 Gene Carnitine Palmitoyltransferase II Deficiency (Lethal Neonatal) NGS Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS pipeline with orthogonal confirmation.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy – no clinic visit needed.
- Clinical Guidance: Telephone-based post-test clinical interpretation and genetic counselling by DHA-licensed specialists.
- Insurance Assistance: Direct Billing Verification via WhatsApp +971 54 548 8731. We handle the paperwork.
Test Overview & Methodology
The CPT2 NGS test delivers definitive molecular diagnosis within 3–4 weeks, enabling immediate metabolic management and family genetic counseling.
| Feature | Our CPT2 NGS Test | Closest Alternative (Single-gene Sanger / Targeted Panel) |
|---|---|---|
| Methodology | Full gene NGS with CNV analysis & orthogonal confirmation | Sanger sequencing limited to known hotspots; may miss deep intronic/regulatory variants |
| Diagnostic Sensitivity | 99.9% (with clinical correlation) | ~85-90% for common mutations only |
| Turnaround Time | 3-4 Weeks | 2-4 Weeks (limited scope) |
| Sample Flexibility | Whole Blood, Extracted DNA, Dried Blood Spot on FTA Card | Often requires fresh blood; FTA card not accepted |
| Regulatory Compliance | ISO 9001:2015, UAE PDPL, Health ICT Law 2019 | Variable; may lack full UAE clinical licensing |
Physician Insight & Safety Protocols
“As a Consultant in Medical Genetics, I understand the urgency in diagnosing lethal neonatal metabolic disorders. This comprehensive NGS analysis of the CPT2 gene provides a precise molecular diagnosis that guides immediate life-saving interventions and informs family planning. However, clinical correlation with biochemical and metabolic markers remains essential.” — Lina Osama Zaki Quteineh (DHA: 9294403)
Medication Warning: Do not discontinue prescribed medication or supplements without consulting your treating physician. Inform the phlebotomist of all current medications; some can interfere with DNA extraction and quality.
Exclusion Criteria & Safety Red Flags
- Exclusion: Individuals who have undergone allogeneic bone marrow transplantation within the last 6 weeks, or recent whole blood transfusion, as donor DNA may contaminate the sample.
- Exclusion: Patients on leukocyte-reduced blood products; collected DNA yield may be insufficient.
- Emergency Red Flags: If the newborn exhibits seizures, severe hypoglycaemia, hypotonia, cardiomyopathy, or respiratory distress, seek immediate emergency medical care. Do not wait for test results.
Patient FAQ & Clinical Guidance
1. Why does my neonate need a CPT2 genetic test so urgently?
This test rapidly confirms or excludes lethal neonatal CPT2 deficiency, a metabolic crisis that can cause sudden death if undetected and untreated. The NGS analysis of the full CPT2 gene detects pathogenic variants responsible for life-threatening hypoglycaemia and cardiac complications, enabling emergency metabolic support and a clear medical management plan within hours of result interpretation.
2. How reliable is the CPT2 deficiency genetic test for newborns?
Our ISO-accredited NGS test offers 99.9% diagnostic sensitivity for CPT2 gene mutations when paired with biochemical and clinical findings. The test analyzes all coding exons, flanking intronic regions, and copy number variations. A positive result is definitive; a negative result in a symptomatic neonate warrants further metabolic workup for other fatty acid oxidation disorders.
3. What do the results mean for my family and future pregnancies?
A positive CPT2 result confirms autosomal recessive inheritance, meaning both parents are obligate carriers; genetic counseling can guide reproductive choices. Carrier testing for siblings and relatives is available, and prenatal/preimplantation genetic diagnosis can be offered. Identification of the familial mutation allows precise family planning and early management of subsequent births.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE 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. Our DHA-licensed laboratory adheres to strict confidentiality and security protocols.
Clinical & Logistical Metadata
| Test Name | CPT2 Gene Carnitine Palmitoyltransferase II Deficiency (Lethal Neonatal) NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Venous), Extracted DNA, Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV analysis and orthogonal confirmation |
| ICD-10-CM Code | E71.312 |
| LOINC Code | 101675-7 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians