Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 Weeks
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 โ 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 3โ4 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
โAs 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.โ โ 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 | 3โ4 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 |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["Inform phlebotomist of all current medications", "Do not discontinue prescribed medication without consulting physician"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians