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Test Price

2,800 AED

✅ Home Collection Available

CD320 Gene (Methylmalonic Aciduria, cblR Type) Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).

Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM).

Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation and next-step planning.

Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The CD320 gene analysis is a definitive Next‑Generation Sequencing (NGS) assay that decodes the entire coding region of the CD320 gene, identifying pathogenic variants responsible for methylmalonic aciduria, cblR type. This test enables accurate diagnosis, carrier detection, and family risk assessment, directly informing metabolic management and reproductive planning.

Feature Our CD320 NGS Test Nearest Alternative (Metabolic Panel)
Methodology Next‑Generation Sequencing (full gene, all exons ± intronic boundaries) Urine organic acids + plasma acylcarnitines (HPLC‑MS)
Diagnostic Precision ≥99.9% sensitivity for known pathogenic variants ~85% – may miss specific cblR subtype
Turnaround Time 3–4 Weeks 5–7 Days
Clinical Utility Confirmatory diagnosis, carrier screening, family cascade testing Screening; confirmation always requires DNA test
Cost 2,800 AED ~1,500 AED (plus follow‑up genetic test)

Physician Insight & Safety Protocols

“As a DHA-licensed Consultant Medical Genetics, I emphasize that a CD320 genetic result must always be integrated with biochemical findings, newborn screening data, and clinical phenotype. A confirmed mutation strongly supports methylmalonic aciduria, cblR type, but phenotypic variability exists; therefore, metabolic monitoring and specialist follow‑up remain essential.”

Lina Osama Zaki Quteineh, DHA Registration ID: 9294403

Advisory: Medication Safety

⚠️ Important Notice

Do not discontinue any prescribed medication – including vitamin B12, carnitine, or metabolic disease supplements – without consulting your managing physician. Altering therapy based solely on genetic results can precipitate metabolic decompensation.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Allogeneic hematopoietic stem cell transplant within the last 6 months (may cause donor‑derived DNA interference). Minors lacking legal guardian consent as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability. Inability to provide a sufficient blood/DNA sample volume.
  • Emergency Red Flags: Seek immediate emergency medical care (call 998) if you experience recurrent vomiting, profound lethargy, seizures, or rapid breathing – these may indicate an acute metabolic crisis. Do not wait for genetic test results.

Patient FAQ & Clinical Guidance

1. What is the CD320 gene test used for?

A: The CD320 gene test detects mutations responsible for methylmalonic aciduria cblR type, enabling accurate diagnosis. This NGS-based assay examines the entire CD320 gene to identify single nucleotide variants, small insertions/deletions, and copy number changes; a positive result confirms the cblR type of methylmalonic aciduria, guiding targeted metabolic therapy and genetic counseling for affected families.

2. How is the CD320 genetic test performed?

A: We sequence blood-derived DNA via NGS to identify CD320 mutations causing methylmalonic aciduria cblR type. A small venous blood sample, extracted DNA, or a single dried blood spot (FTA card) is accepted; the laboratory then performs targeted capture and high‑depth sequencing, followed by bioinformatic analysis to detect pathogenic variants with high confidence.

3. What do the results mean?

A: A positive finding reveals a CD320 mutation confirming methylmalonic aciduria cblR type or carrier status. A negative report means no pathogenic variant was detected in the regions tested, significantly reducing the likelihood of this specific condition; however, if clinical suspicion remains high, further metabolic investigations or whole‑exome sequencing may be recommended by your specialist.

UAE Regulatory & Data Privacy Adherence

Compliance Framework

All genetic testing performed by DNA Labs UAE (DHA Facility License No. 1143) strictly adheres to:

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

Our secure data handling and encrypted reporting ensure patient confidentiality and compliance with UAE healthcare regulations. Physical location: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.

Clinical & Logistical Metadata

Test Name CD320 Gene (Methylmalonic Aciduria, cblR Type) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral whole blood, extracted DNA, or dried blood spot (FTA card)
Methodology Used Next-Generation Sequencing (NGS) – full gene coverage
ICD-10-CM Code E71.120
LOINC Code 81214-4
DHA Facility License & Address License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE

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