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Test Price

2,800 AED

✅ Home Collection Available

PCCA Gene Propionic Acidemia Genetic Test in UAE | 2,800 AED | Genetic Diagnostic Screening

Executive Summary & Core Metrics

  • Diagnostic Accuracy: >99.9% sensitivity and specificity for SNVs, indels, and copy-number variants via ISO 15189 accredited NGS pipeline.
  • Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
  • Medical Oversight: Post-test telephonic consultation and result interpretation by Consultant Medical Genetics (DHA Registration ID: 9294403).
  • Insurance Support: Direct pre-authorization and billing verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

This next-generation sequencing (NGS) test analyzes the entire coding region and intron-exon boundaries of the PCCA gene to detect pathogenic variants causing propionic acidemia. This rare autosomal recessive metabolic disorder requires precise molecular confirmation for definitive diagnosis, carrier detection, and informed family planning. Our comprehensive approach surpasses traditional Sanger sequencing in both breadth and resolution.

Feature Our NGS Test Closest Alternative (Sanger Sequencing)
Methodology Next-Generation Sequencing (NGS) Sanger Sequencing (targeted exons)
Coverage Full gene – all exons, intron-exon boundaries, deep intronic regions Selected exons only; may miss deep intronic variants
Sensitivity >99.9% for SNVs, indels, and copy-number variants ~95%; large deletions or duplications often missed
Turnaround Time 10–14 Business Days 4–6 Weeks
Price 2,800 AED ~4,500 AED

Physician Insight & Safety Protocols

“As a Consultant Medical Geneticist, I emphasize that interpreting PCCA variants requires careful correlation with plasma acylcarnitines and urine organic acids. This NGS test provides definitive molecular insights but must be integrated with the patient's full clinical picture. Genetic counseling is essential to discuss autosomal recessive inheritance patterns and recurrence risks for family planning.”

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

Federal Medical Liability & Safety Advisory

Per Federal Decree-Law No. 4 of 2016 on Medical Liability, all patients must provide informed consent prior to genetic sampling. Do not discontinue any prescribed metabolic management or medication without consulting your physician. This test is an adjunct to comprehensive clinical evaluation and should not replace urgent medical care when symptoms are present.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Patients experiencing acute metabolic decompensation require urgent medical stabilization. Genetic sampling should only occur once the patient is clinically stable and medically cleared.
  • Red Flags: If the patient develops vomiting, lethargy, hypotonia, seizures, or severe ketotic breath, seek immediate emergency medical intervention. Do not wait for genetic test results to initiate treatment.

Patient FAQ & Clinical Guidance

1. What does a positive PCCA mutation result indicate?

A positive result identifies a pathogenic variant in the PCCA gene, confirming a molecular diagnosis of propionic acidemia when correlated with clinical symptoms and metabolic biomarkers (e.g., elevated C3-carnitine, urinary methylcitrate). It is not a standalone diagnosis. Genetic counseling is strongly recommended to discuss autosomal recessive inheritance patterns and risks to siblings or future offspring.

2. How is the sample collected and what are the pre-test requirements?

A standard peripheral whole blood sample (3–5 mL in an EDTA tube) or extracted DNA is required. Our VIP mobile phlebotomy service can collect the sample at your home using a temperature-controlled cold chain. A pre-test genetic counseling session is mandatory to document family history and obtain informed consent. No fasting or special preparation is needed.

3. Is this genetic test covered by UAE health insurance?

Many UAE health insurers cover medically indicated NGS tests for inborn errors of metabolism pending prior authorization. Our team provides direct billing verification via WhatsApp at +971 54 548 8731. A referral from a DHA-licensed physician detailing clinical suspicion and metabolic abnormalities is typically required for insurance approval.

4. What is the difference between being a carrier and being affected?

Propionic acidemia follows an autosomal recessive inheritance pattern. Affected individuals inherit two pathogenic PCCA variants (one from each parent) and manifest metabolic symptoms. Carriers possess only one pathogenic variant and are generally asymptomatic, but they face a 25% chance of having an affected child if both parents are carriers. Carrier screening is a vital component of preconception planning.

5. How long does it take to get results, and how are they delivered?

The standard turnaround time is 10–14 business days from the date of sample receipt in our laboratory. Results are reviewed and signed off by our Consultant Medical Geneticist and uploaded to a secure online patient portal. A telephonic consultation is scheduled to explain the findings, clinical implications, and recommended next steps in detail.

UAE Regulatory & Data Privacy Adherence

Data Privacy & Security: DNA Labs UAE 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, access-controlled, and processed exclusively within the UAE.

Clinical Compliance: Our DHA-licensed laboratory (License No. 1143) adheres to ISO 15189 standards and DHA Healthcare Regulations. Informed consent is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name PCCA Gene Sequencing (Propionic Acidemia)
Price (AED) 2,800 AED
Turnaround Time 10–14 Business Days
Sample Type / Matrix Peripheral Whole Blood (EDTA) or Extracted DNA
Methodology Used Next-Generation Sequencing (NGS) – Full Gene Coverage
ICD-10-CM Code E71.121
LOINC Code 82153-1
DHA Facility License & Address License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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