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Test Price

2,800 AED

✅ Home Collection Available

DHA-Certified Genetic Testing License: 1143 | ISO 9001:2015

PC Gene Pyruvate Carboxylase Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed Lab

Executive Summary & Core Metrics

  • Diagnostic Accuracy: Achieves >99.9% analytical sensitivity for point mutations and small indels via validated Next Generation Sequencing (NGS) technology.
  • Superior Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM for standard blood specimens.
  • Clinical Guidance: Includes a post-test telehealth consultation with a DHA-licensed Consultant Medical Geneticist to interpret your personalized molecular report.
  • Insurance Support: Direct billing verification and instant coverage checks available via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The PC Gene Pyruvate Carboxylase Deficiency Genetic Test provides definitive molecular diagnosis for metabolic disorders, guiding personalized management and family planning. This full gene sequencing analysis adheres to the highest international standards for clinical genomics.

Feature Our Test (Premium UAE Lab) Closest Alternative (Standard Panel)
Methodology NGS (Next Generation Sequencing) – full gene coverage Targeted mutation analysis (limited hotspot coverage)
Turnaround Time 3 – 4 Weeks 5 – 6 Weeks
Sample Type Flexibility Whole Blood, Extracted DNA, or One Drop Blood on FTA Card Whole Blood only
Regulatory Compliance Full DHA/MOHAP, ISO 9001:2015, UAE PDPL Data Privacy Basic compliance; variable
Price 2800 AED 2600 – 3000 AED (often excluding genetic counselling)

Physician Insight & Safety Protocols

“A positive genetic result for pyruvate carboxylase deficiency must be interpreted in the context of a patient’s clinical presentation, biochemical profile, and family history. This test is a powerful diagnostic adjunct, but it does not replace comprehensive metabolic evaluation by a specialist. Our role is to provide precise molecular data to guide informed clinical decisions.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication & Management Advisory

⚠️ Important Medication Guidance

Patients and caregivers must not discontinue any prescribed metabolic therapy, including biotin or specific dietary interventions, prior to or following sample collection. All treatment adjustments should be made exclusively by the managing metabolic physician.

Safety Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Genetic counselling is mandatory before sample collection. Testing is not offered to individuals without informed consent or when clinical suspicion is absent.
  • Emergency Red Flags: If the patient exhibits acute metabolic crisis—such as severe hypoglycemia, seizures, progressive lethargy, or respiratory distress—seek immediate emergency medical care; do not delay for test results.
  • This test is for diagnostic or carrier screening purposes only and must be ordered by a licensed healthcare professional.

Patient FAQ & Clinical Guidance

1. What is the accuracy of this genetic test compared to traditional biochemical assays?

Our full-gene NGS test offers >99% sensitivity for point mutations and small indels, providing a definitive molecular diagnosis that surpasses the diagnostic ceiling of standard enzyme-based biochemical assays. This makes it the gold standard for confirming pyruvate carboxylase deficiency genetically.

2. How long will it take to receive my results, and how are they delivered?

Results are typically available within 3 to 4 weeks from sample receipt and are reported via a secure, encrypted online portal. You will also receive a telehealth consultation with our DHA-licensed Consultant Medical Geneticist to explain your personalized report and outline subsequent clinical management steps.

3. Can I use an FTA card for my child instead of a venous blood draw?

Yes, we accept a single drop of blood on an FTA card as a convenient alternative to venipuncture, especially for paediatric patients. This method maintains high DNA yield and diagnostic accuracy while adhering to our laboratory's stringent quality standards.

UAE Regulatory & Data Privacy Adherence

Legal & Compliance Framework

This service strictly complies with the following UAE federal legislations:

  • Data Protection: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
  • Health Data Governance: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
  • Patient Safety & Consent: Federal Decree-Law No. 4 of 2016 on Medical Liability.

All genetic data is processed exclusively within our ISO 9001:2015 certified facility and is never shared with third parties without explicit, informed consent.

Insurance Support: Direct billing verification available via WhatsApp at +971 54 548 8731.

Clinical & Logistical Metadata

Test Name PC Gene Full Sequencing & Pyruvate Carboxylase Deficiency Analysis
Price (AED) 2,800
Turnaround Time 21 – 28 Days (3 – 4 Weeks)
Sample Type / Matrix Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card)
Methodology Used Next Generation Sequencing (NGS) – Full Gene Coverage
ICD-10-CM Code E74.4, Z13.79, Z14.8
LOINC Code 82620-1
DHA Facility License & Laboratory Address License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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