FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic Test
Short Name: FTCD NGS Genetic Test
Also known as: Formiminotransferase cyclodeaminase deficiency, FTCD deficiency
FTCD Gene Glutamate formiminotransferase 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose FTCD gene glutamate formiminotransferase deficiency through genetic analysis, enabling early intervention and management.
- Test Code
- 2014
- 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
Genetic counseling session recommended to draw a pedigree chart and assess family history. Provide clinical history of the patient.
Method: Blood draw or FTA card collection
Laboratory Analysis
Sample collected via blood draw in EDTA tube or using a FTA card with one drop of blood. Procedure is non-invasive and safe.
Report Delivery
Sample is processed and analyzed in the laboratory. Results are reviewed by genetic specialists.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose FTCD gene glutamate formiminotransferase deficiency through genetic analysis, enabling early intervention and management.
How to Prepare
- Collect blood sample in EDTA tube or use FTA card.
- Ensure proper labeling with patient details.
- Store and transport sample at ambient room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Consult a genetic specialist if you have symptoms or family history of this disorder for early diagnosis and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or insufficient sample volume
- Improperly labeled or contaminated samples
- Samples not collected as per instructions
Understanding Your Results
Positive
Pathogenic variant detected, confirming diagnosis of glutamate formiminotransferase deficiency.
Negative
No pathogenic variants detected; clinical correlation advised if symptoms persist.
Variant of uncertain significance
A genetic change with unknown clinical impact; further testing or family studies may be needed.
If you experience symptoms like developmental delay, seizures, or neurological issues, or have a family history of this disorder, consult a healthcare provider to discuss genetic testing.
Limitations
- ⚠May not detect all possible mutations in the FTCD gene
- ⚠Results should be correlated with clinical symptoms and family history
- ⚠Cannot predict disease severity or onset with certainty
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Potential emotional impact from test results
- ●Genetic information may have implications for family members
Interfering Factors
- ●Sample contamination
- ●Sample degradation
- ●Improper sample collection or handling
Compare With Similar Tests
| Test | FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic Test | Amino Acid Metabolism Panel | Formiminoglutamic Acid (FIGLU) Test |
|---|---|---|---|
| Comparison | FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic Test |
Frequently Asked Questions
What is FTCD gene glutamate formiminotransferase deficiency?
What are the common symptoms of this condition?
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