CD320 Gene Methylmalonic aciduria CblR type NGS Genetic Test
Short Name: CD320 Gene MMA CblR NGS Test
Also known as: CD320 Gene Test, MMA CblR Genetic Test, Methylmalonic Aciduria CblR Type NGS Test
CD320 Gene Methylmalonic aciduria CblR type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Methylmalonic aciduria CblR type by detecting mutations in the CD320 gene using Next-Generation Sequencing technology.
- Test Code
- 2166
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history review and genetic counseling recommended to understand test implications.
Method: Blood draw with home collection available
Laboratory Analysis
Standard blood draw procedure; home collection available at ambient room temperature.
Report Delivery
Sample is labeled and transported to the laboratory for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Methylmalonic aciduria CblR type by detecting mutations in the CD320 gene using Next-Generation Sequencing technology.
How to Prepare
- Use sterile technique for blood collection
- Label samples with patient details accurately
- Transport at ambient room temperature without delay
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for early diagnosis and management of metabolic disorders like methylmalonic aciduria, especially in families with a history of the condition."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or container
Understanding Your Results
Pathogenic variant detected in CD320 gene
Confirms diagnosis of Methylmalonic aciduria CblR type; management with vitamin B12 supplementation and dietary adjustments recommended.
No pathogenic variant detected
Diagnosis unlikely, but clinical evaluation and additional tests may be needed if symptoms persist.
Consult a healthcare professional if you or your child experiences symptoms such as developmental delays, poor muscle tone, seizures, or if there is a family history of metabolic disorders.
Limitations
- ⚠May not detect all genetic variants or mutations
- ⚠Results require interpretation by a genetic counselor
- ⚠Not a standalone diagnostic tool; clinical correlation needed
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact of genetic diagnosis on the family
Interfering Factors
- ●Sample contamination
- ●Low DNA quality
- ●Hemolyzed blood sample
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Frequently Asked Questions
What is Methylmalonic aciduria CblR type?
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