MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic Test
Short Name: MCEE Gene Deficiency Test
Also known as: MCEE deficiency, Methylmalonyl-CoA epimerase deficiency genetic test
MCEE Gene Methylmalonyl-CoA epimerase deficiency 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Methylmalonyl-CoA epimerase deficiency by identifying mutations in the MCEE gene using NGS technology, enabling early intervention, genetic counseling, and personalized management for affected individuals.
- Test Code
- 2169
- 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
Provide clinical history and undergo genetic counseling to discuss test implications.
Method: Venipuncture
Laboratory Analysis
Blood sample drawn via venipuncture by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising; monitor for any adverse reactions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Methylmalonyl-CoA epimerase deficiency by identifying mutations in the MCEE gene using NGS technology, enabling early intervention, genetic counseling, and personalized management for affected individuals.
How to Prepare
- No fasting required
- Ensure proper identification of sample
- Use sterile collection tubes
- Store samples at ambient temperature if not processed immediately
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for early diagnosis and management of Methylmalonyl-CoA epimerase deficiency, aiding in genetic counseling and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Contaminated or mislabeled samples
Understanding Your Results
No pathogenic variants detected
Low likelihood of MCEE deficiency; clinical correlation recommended
Pathogenic variant(s) identified
Confirms diagnosis; guide management and genetic counseling
Variant of uncertain significance (VUS)
Further testing or clinical evaluation needed
Consult a geneticist or metabolic specialist if symptoms persist, worsen, or if family history of metabolic disorders.
Limitations
- ⚠May not detect all rare or novel mutations
- ⚠Requires correlation with clinical symptoms
- ⚠Genetic counseling is essential for result interpretation
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Improper sample storage or handling
- ●Hemolyzed or degraded DNA samples
Frequently Asked Questions
What is MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic Test?
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What are the symptoms of Methylmalonyl-CoA epimerase deficiency?
How is the test performed?
Is fasting required for the test?
What sample types are accepted?
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Is home sample collection available?
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Can this test detect all mutations?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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