LMBRD1 Gene Methylmalonic aciduria CblF type NGS Genetic Test
Short Name: LMBRD1 Gene MMA CblF NGS Test
Also known as: Methylmalonic aciduria CblF type, LMBRD1 gene test, MMA CblF type genetic test
LMBRD1 Gene Methylmalonic aciduria CblF type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose methylmalonic aciduria CblF type by detecting mutations in the LMBRD1 gene using NGS technology, enabling early treatment and management.
- Test Code
- 4725
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Genetic counseling recommended. Provide detailed clinical history and family pedigree.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture by a trained professional.
Report Delivery
Sample is transported to the laboratory under appropriate conditions for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose methylmalonic aciduria CblF type by detecting mutations in the LMBRD1 gene using NGS technology, enabling early treatment and management.
How to Prepare
- Use sterile collection technique
- Label sample with patient details
- Transport at ambient temperature as specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis through genetic testing is crucial for managing methylmalonic aciduria and improving patient outcomes. Genetic counseling is recommended for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MMA CblF type. Consult genetic counselor for management and family testing.
No pathogenic variant detected
MMA CblF type is unlikely. Consider other genetic or metabolic causes.
Variant of uncertain significance
Further testing, family studies, or clinical correlation may be needed.
If symptoms of methylmalonic aciduria are present, or if there is a family history of the disorder, consult a healthcare provider for evaluation and testing.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
- ⚠Not typically used for prenatal diagnosis
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed sample
Frequently Asked Questions
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