CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia NGS Genetic Test
Short Name: CLPB Gene MGCA7 NGS Test
Also known as: MGCA7, 3-methylglutaconic aciduria type 7, CLPB-related disorder
CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the CLPB gene for accurate diagnosis of 3-methylglutaconic aciduria type 7 (MGCA7), guiding clinical management and genetic counseling.
- Test Code
- 4626
- 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
Clinical history of the patient, including symptoms and family history, must be documented. A genetic counseling session is recommended to draw a pedigree chart of affected family members.
Method: Venipuncture or finger-prick
Laboratory Analysis
Standard blood collection procedure using venipuncture or finger-prick for FTA card. Ensure proper labeling and handling.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the CLPB gene for accurate diagnosis of 3-methylglutaconic aciduria type 7 (MGCA7), guiding clinical management and genetic counseling.
How to Prepare
- Fast for 4-8 hours if specified, though not required for this test
- Avoid strenuous activity before collection
- Inform the phlebotomist of any bleeding disorders
- Ensure sample is correctly labeled with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS genetic test is essential for confirming MGCA7 diagnosis, especially in families with a history of metabolic disorders, enabling early intervention and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect sample type or volume
- Missing patient identification
- Contaminated or degraded samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MGCA7. Genetic counseling and management planning recommended.
No pathogenic variant detected
MGCA7 unlikely, but consider other diagnoses if symptoms persist.
Variant of uncertain significance
Further family studies or functional assays may be needed for clarification.
Consult a doctor if symptoms such as cataracts, developmental delays, neutropenia, or seizures are present, or if there is a family history of MGCA7. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect novel or private mutations
- ⚠Does not assess other genes or conditions
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor sample quality (e.g., hemolyzed blood)
- ●Insufficient DNA quantity
- ●Contamination during sample handling
Frequently Asked Questions
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