GPHN Gene Molybdenum cofactor deficiency type C NGS Genetic Test
Short Name: GPHN Molybdenum Cofactor Deficiency Type C Test
Also known as: Molybdenum Cofactor Deficiency Type C, GPHN Gene Mutation Test
GPHN Gene Molybdenum cofactor deficiency type C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA 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 GPHN gene for diagnosis of Molybdenum Cofactor Deficiency Type C.
- Test Code
- 2175
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and undergo genetic counseling session.
Method: Venipuncture
Laboratory Analysis
Standard blood draw or DNA extraction procedure.
Report Delivery
Sample processed for NGS analysis in the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the GPHN gene for diagnosis of Molybdenum Cofactor Deficiency Type C.
How to Prepare
- Avoid hemolysis in blood sample
- Use appropriate collection tubes
- Store sample at specified temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Molybdenum Cofactor Deficiency Type C is crucial for accurate diagnosis and management of this rare metabolic disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Incorrectly labeled sample
Understanding Your Results
Consult a doctor if experiencing symptoms such as seizures, developmental delays, or if there is a family history of the disorder.
Limitations
- ⚠Test does not detect all possible mutations
- ⚠Results may require confirmation by other methods
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Insufficient sample volume
Frequently Asked Questions
What is the cost of the GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic Test?
What are the symptoms of Molybdenum Cofactor Deficiency Type C?
How is Molybdenum Cofactor Deficiency Type C diagnosed?
What does a positive test result mean?
Is home sample collection available for this test?
How long does it take to get the test results?
Is genetic counseling recommended before testing?
What treatment options are available for Molybdenum Cofactor Deficiency Type C?
Can this test be done on children?
What is the accuracy of the NGS technology used?
Are there any risks associated with the test?
How can I book this test at DNA Labs India?
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