MLYCD Gene Malonyl-CoA decarboxylase deficiency NGS Genetic Test
Short Name: MLYCD Gene NGS Test
Also known as: MCD Deficiency, Malonyl-CoA Decarboxylase Deficiency, MLYCD Gene Mutation
MLYCD Gene Malonyl-CoA decarboxylase 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 Results available 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 detect mutations in the MLYCD gene that cause malonyl-CoA decarboxylase deficiency, aiding in diagnosis and management of this rare metabolic disorder.
- Test Code
- 2135
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results available in 3 to 4 weeks.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree.
Method: Venipuncture
Laboratory Analysis
Blood sample will be drawn from a vein in the arm using a sterile needle.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: Results available in 3 to 4 weeks.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the MLYCD gene that cause malonyl-CoA decarboxylase deficiency, aiding in diagnosis and management of this rare metabolic disorder.
How to Prepare
- Fast for 8-10 hours if required by the lab
- Avoid strenuous exercise before sample collection
- Inform the phlebotomist of any medications or health conditions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MLYCD deficiency should be considered in patients with unexplained metabolic symptoms or family history. Early diagnosis facilitates appropriate management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted sample
- Hemolyzed sample
- Incorrect sample type
- Leaking container
Understanding Your Results
Positive for pathogenic variant
Confirms malonyl-CoA decarboxylase deficiency. Refer to metabolic specialist for management.
Negative
No mutations detected. Consider other diagnoses or repeat testing if clinical suspicion remains.
Variant of uncertain significance
Further testing and clinical correlation recommended. Genetic counseling advised.
If genetic test results are positive or if symptoms persist despite negative results, consult a metabolic specialist or geneticist for further evaluation and management.
Limitations
- ⚠May not detect all mutation types such as large deletions
- ⚠Variants of uncertain significance may be identified
- ⚠Does not assess for other genetic disorders
Risks & Considerations
- ●Minimal physical risk from blood draw such as bruising
- ●Potential psychological impact of results
- ●Risk of inconclusive or uncertain results
Interfering Factors
- ●Sample hemolysis
- ●Contamination
- ●Insufficient sample volume
- ●Degraded DNA
Compare With Similar Tests
| Test | MLYCD Gene Malonyl-CoA decarboxylase deficiency NGS Genetic Test | VLCAD Deficiency NGS Genetic Test | MCAD Deficiency NGS Genetic Test |
|---|---|---|---|
| Comparison | MLYCD Gene Malonyl-CoA decarboxylase deficiency NGS Genetic Test | Similar NGS-based test for fatty acid oxidation disorder involving VLCAD gene. | Tests for medium-chain acyl-CoA dehydrogenase deficiency, another fatty acid metabolism disorder. |
Frequently Asked Questions
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