SLC16A1 Gene Erythrocyte lactate transporter defect NGS Genetic Test
Short Name: SLC16A1 Erythrocyte Lactate Transporter Defect Test
Also known as: SLC16A1 mutation test, Erythrocyte lactate transporter genetic test, SLC16A1 gene analysis
SLC16A1 Gene Erythrocyte lactate transporter defect 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
To diagnose mutations in the SLC16A1 gene associated with erythrocyte lactate transporter defect, enabling accurate identification of the disorder for appropriate medical management.
- Test Code
- 1977
- 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 of patient and genetic counseling session to draw a pedigree chart of family members affected with erythrocyte lactate transporter defect.
Method: Venipuncture for blood, or FTA card for one drop blood
Laboratory Analysis
Sample collection via venipuncture or FTA card under sterile conditions.
Report Delivery
Sample sent to laboratory for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mutations in the SLC16A1 gene associated with erythrocyte lactate transporter defect, enabling accurate identification of the disorder for appropriate medical management.
How to Prepare
- Ensure proper sample labeling
- Follow aseptic techniques
- Store sample at ambient room temperature if not processed immediately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is vital for identifying erythrocyte lactate transporter defects, which are often overlooked in clinical practice. Early diagnosis can guide management and prevent complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Insufficient sample volume
- Incorrect labeling
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of erythrocyte lactate transporter defect, recommend clinical correlation and genetic counseling
Negative for pathogenic variants
No mutations detected, but symptoms may require further evaluation
Variant of uncertain significance (VUS)
Variant identified but significance unclear, recommend follow-up testing and monitoring
If you experience symptoms like exercise intolerance, muscle pain, or fatigue, or if there is a family history of metabolic disorders, consult a healthcare provider for evaluation.
Limitations
- ⚠May not detect all genetic variants, including mosaicism
- ⚠Results require clinical correlation
- ⚠Variant of uncertain significance (VUS) may require further testing
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Emotional impact of genetic results may require support
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample storage
Compare With Similar Tests
| Test | SLC16A1 Gene Erythrocyte lactate transporter defect NGS Genetic Test | Lactate Dehydrogenase (LDH) Test | Pyruvate Kinase Deficiency Test | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | SLC16A1 Gene Erythrocyte lactate transporter defect NGS Genetic Test | LDH test measures enzyme levels, while SLC16A1 test identifies genetic mutations | Pyruvate kinase deficiency is a different metabolic disorder with distinct genetic basis | WES covers a broader range of genes, but SLC16A1 test is targeted for specific defect |
Frequently Asked Questions
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