SLC25A13 Gene Citrin deficiency NGS Genetic Test
Short Name: SLC25A13 Citrin Deficiency Test
SLC25A13 Gene Citrin 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect mutations in the SLC25A13 gene for accurate diagnosis of citrin deficiency, enabling early intervention and management of this metabolic disorder.
- Test Code
- 1927
- 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
Clinical history review and genetic counseling session to draw a pedigree chart of family members affected with citrin deficiency.
Method: Venipuncture or FTA Card Collection
Laboratory Analysis
Sample collection via venipuncture or FTA card, following standard protocols.
Report Delivery
Sample processing and analysis using NGS technology, followed by report generation.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the SLC25A13 gene for accurate diagnosis of citrin deficiency, enabling early intervention and management of this metabolic disorder.
How to Prepare
- Provide clinical history of the patient
- Attend genetic counseling session for pedigree chart preparation
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated sample
- Improper collection
Understanding Your Results
Positive for pathogenic variants
Diagnosis of citrin deficiency confirmed; recommend clinical management and family screening.
Negative for pathogenic variants
No mutations detected; symptoms may be due to other causes; further evaluation may be needed.
If symptoms persist or for genetic counseling following test results, especially for family planning or management strategies.
Limitations
- ⚠May not detect all possible mutations
- ⚠Results require genetic counseling for interpretation
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising or infection
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
Frequently Asked Questions
What is citrin deficiency?
How is the SLC25A13 Gene Citrin deficiency NGS Genetic Test performed?
Who should get this test?
What does a positive test result mean?
What is the cost of the test?
How long does it take to get results?
Is fasting required for this test?
Can this test be done at home?
What are the symptoms of citrin deficiency?
How accurate is the NGS Genetic Test?
What should I do before getting tested?
Is genetic counseling included in the test cost?
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