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Test Price

2,800 AED

✅ Home Collection Available

LMBRD1 Gene Methylmalonic Aciduria CblF Type Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

Executive Summary

This advanced NGS test precisely sequences the LMBRD1 gene to detect pathogenic variants causing Methylmalonic Aciduria CblF type, a rare inherited metabolic disorder. With 99.9% diagnostic sensitivity, ISO-certified processing, and DHA-compliant protocols, we ensure clinically actionable results for individuals, families, and healthcare practitioners in the UAE.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
  • Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The LMBRD1 Gene Methylmalonic Aciduria CblF Type NGS Test identifies mutations in the LMBRD1 gene responsible for impaired vitamin B12 metabolism, enabling early diagnosis and management of methylmalonic acidemia. This test is essential for confirming clinical suspicion, carrier screening, and guiding dietary or pharmacological interventions.

Feature Our NGS Test (This Package) Alternative (Traditional Sanger)
Precision99.9% sensitivity for LMBRD1 variantsLimited to specific exons; lower coverage
MethodologyNext Generation Sequencing (NGS)Sanger capillary sequencing
Turnaround Time3 to 4 WeeksOften >6 weeks
Clinical UtilityComprehensive gene analysis, carrier detectionTargeted mutation only

Pre-Test Information & Sample Collection:

A detailed clinical history and a genetic counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblF type is required before testing. Sample options: Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card. Home collection handles cold-chain logistics seamlessly.

Physician Insight & Safety Protocols

"I understand that facing a potential genetic metabolic disorder can be overwhelming. This test provides precise molecular confirmation, but results must be interpreted alongside clinical and biochemical findings by a qualified specialist. I urge you not to discontinue any prescribed treatment without consulting your physician."

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Licensed (9294403)

Advisory Warning

Medication Warning: Do not discontinue prescribed medication without consulting your doctor.

Exclusion Criteria & Emergency Red Flags

This test is not a substitute for emergency care. If a child under investigation experiences sudden lethargy, vomiting, rapid breathing, or neurological deterioration, seek immediate hospital attention. The test is not intended for prenatal diagnosis without formal genetic counselling. Do not interpret results without a specialist review.

Patient FAQ & Clinical Guidance

1. What does the LMBRD1 gene test detect and who should consider it?

This NGS test detects disease-causing mutations in the LMBRD1 gene linked to CblF-type methylmalonic aciduria, aiding precise diagnosis for individuals with metabolic symptoms or positive newborn screening. It is recommended for patients with unexplained metabolic acidosis, developmental delay, or family history of methylmalonic acidemia, as well as carrier screening for at-risk relatives.

2. How should I prepare and what do the results mean for treatment?

No fasting is required; simply provide a blood sample or dried blood spot during our home visit. Positive findings indicate a genetic basis for methylmalonic aciduria, enabling vitamin B12 responsiveness testing and tailored dietary or cofactor therapy under specialist supervision. Normal results reduce the likelihood of this specific disorder but do not exclude other metabolic conditions.

3. Is this test covered by insurance and how fast are results?

We support direct billing verification via WhatsApp to confirm your coverage; turnaround time is 3 to 4 weeks from sample receipt. Results include a clinically interpreted report and access to telephonic post-guidance by our DHA-licensed medical team, ensuring you fully understand the implications.

UAE Regulatory & Data Privacy Adherence

Data Protection & Compliance: This test is conducted 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. Your clinical data and genetic information are securely stored and processed under stringent privacy protocols, accessible only to authorized medical professionals. The laboratory operates under DHA Facility License No. 1143, ensuring adherence to the highest standards of confidentiality and regulatory compliance.

Clinical & Logistical Metadata

Test Name LMBRD1 Gene Methylmalonic Aciduria CblF Type Genetic Test
Price (AED) 2800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card
Methodology Used Next Generation Sequencing (NGS)
ICD-10-CM Code E71.120
LOINC Code 55233-1
DHA Facility License & Laboratory Address Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License: 1143

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