Test Price
2,800 AED✅ Home Collection Available
PC Gene (Pyruvate Carboxylase Deficiency) Next‑Generation Sequencing (NGS) Test in UAE 2,800 AED | DHA Licensed & Sanctioned
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑accredited Next‑Generation Sequencing, validated against international clinical datasets.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM.
Clinical Guidance: Post‑test telephonic interpretation by a DHA‑licensed Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Pyruvate carboxylase deficiency is a rare autosomal recessive inborn error of metabolism that impairs gluconeogenesis and anaplerosis, leading to lethal neonatal lactic acidosis, neurodevelopmental regression, or Leigh‑like syndrome. Our Next‑Generation Sequencing (NGS) test sequences the entire coding region of the PC gene, detecting point mutations, indels, and copy number variations with a rapid 3–4 week turnaround.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% sensitivity for all coding variants, including deep intronic & copy number changes | ~90% sensitivity limited to selected exons/hotspots; misses large deletions |
| Methodology | Next‑Generation Sequencing (NGS) with validated bioinformatics pipeline & CNV caller | Sanger sequencing of individual exons; no CNV analysis |
| Turnaround Time | 3 – 4 weeks | 6 – 8 weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (DHA Registration ID: 9294403) shares: “Genetic test results must be interpreted alongside clinical and biochemical markers; an elevated lactate‑to‑pyruvate ratio combined with neurologic signs reinforces the diagnosis of pyruvate carboxylase deficiency. Our team ensures every patient receives comprehensive post‑test guidance to navigate the next steps.”
Medication Advisory
Medication Warning
Do not discontinue any prescribed medication or metabolic formula without consulting your treating physician. Abrupt cessation can lead to metabolic decompensation.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Neonates with uncorrected metabolic acidosis requiring acute stabilization; individuals unable to provide informed consent (minors require legal guardian consent per Federal Decree‑Law No. 4 of 2016 on Medical Liability).
- Exclusion: Samples contaminated with heparin or collected without pre‑test genetic counseling session and pedigree documentation.
- Emergency: If the patient develops sudden lethargy, intractable vomiting, tachypnea, or seizures, proceed immediately to the nearest emergency department and inform the team of suspected pyruvate carboxylase deficiency.
Patient FAQ & Clinical Guidance
1. What does the PC Gene Pyruvate Carboxylase Deficiency NGS Test involve?
Our advanced NGS panel sequences all coding exons of the PC gene to detect pathogenic variants linked to pyruvate carboxylase deficiency, a severe metabolic crisis disorder. The test requires a simple blood draw, an extracted DNA sample, or a dried blood spot on an FTA card. Results are reported within 3–4 weeks, backed by ISO‑certified laboratory processing and a complimentary telephonic counseling session.
2. How should I prepare for this genetic blood test?
No fasting or medication changes are needed; however, a pre‑test genetic counseling session is mandatory to document family history of pyruvate carboxylase deficiency. You will receive a structured pedigree chart to complete with your genetic counselor. No heparin‑containing tubes should be used for blood collection; EDTA whole blood, dried blood spots, or purified DNA are accepted. Our VIP phlebotomist adheres to strict cold‑chain protocol during home collection.
3. How reliable are the results, and what steps follow after diagnosis?
Our test provides >99.9% sensitivity using clinically validated NGS technology, confirmed by ISO 9001:2015 certification and UAE regulatory compliance. A positive result enables targeted medical management (e.g., anaplerotic therapy, high‑carbohydrate diet) and family cascade testing, under the guidance of a DHA‑licensed neurologist or metabolic specialist. All data is protected under Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL).
UAE Regulatory & Data Privacy Adherence
Data Privacy & Healthcare Compliance
Your clinical data is processed 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. Patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic information is encrypted, anonymized, and accessed solely by authorized clinical personnel.
Clinical & Logistical Metadata
| Test Name | PC Gene (Pyruvate Carboxylase Deficiency) Next‑Generation Sequencing (NGS) Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | E74.4 |
| LOINC Code | 76518-2 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs 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