DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test
Short Name: DMGDH Gene Test
Also known as: DMGDH deficiency, Dimethylglycine dehydrogenase deficiency
DMGDH Gene Dimethylglycine dehydrogenase deficiency 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
The purpose of this test is to diagnose DMGDH gene dimethylglycine dehydrogenase deficiency by detecting pathogenic variants in the DMGDH gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 4672
- 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
No specific preparation required. Provide clinical history and family pedigree chart as advised.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site. Store samples as per instructions to maintain stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose DMGDH gene dimethylglycine dehydrogenase deficiency by detecting pathogenic variants in the DMGDH gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS genetic test is essential for diagnosing DMGDH gene deficiency, a rare metabolic disorder, and helps in genetic counseling and management planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or contaminated samples
Understanding Your Results
Negative
No pathogenic variants detected in the DMGDH gene. Clinical correlation recommended.
Positive
Pathogenic variant(s) identified, confirming DMGDH gene deficiency. Genetic counseling advised.
Variant of uncertain significance
A variant was detected but clinical significance is unknown. Further family studies or testing may be needed.
Consult a healthcare provider or genetic counselor if symptoms like developmental delay, seizures, or metabolic crises occur, or for family planning after a positive result.
Limitations
- ⚠May not detect all genetic variants or deep intronic mutations
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results should be correlated with clinical symptoms and other tests
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Rare allergic reactions to antiseptic
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Improper sample storage or handling
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test | Glycine Level Test | Sanger Sequencing | Metabolic Panel |
|---|---|---|---|---|
| Comparison | DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test |
Frequently Asked Questions
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