SLC22A5 Gene Carnitine deficiency NGS Genetic Test
Short Name: Carnitine Deficiency NGS Test
Also known as: Primary Carnitine Deficiency, OCTN2 Deficiency
SLC22A5 Gene Carnitine deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 carnitine deficiency caused by SLC22A5 gene mutations, enabling targeted treatment and genetic counseling for affected individuals and families.
- Test Code
- 1902
- 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, Next-Generation Sequencing
Sample Collection
Provide clinical history and undergo a genetic counseling session to draw a pedigree chart of family members affected with carnitine deficiency.
Method: Blood Draw or FTA Card
Laboratory Analysis
Blood sample or DNA collection using standard phlebotomy or FTA card method.
Report Delivery
Sample is sent to the laboratory for NGS analysis; results are available in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose carnitine deficiency caused by SLC22A5 gene mutations, enabling targeted treatment and genetic counseling for affected individuals and families.
How to Prepare
- Sample type: Blood or Extracted DNA or One drop Blood on FTA Card.
- Ensure proper labeling and handling to avoid contamination.
- Home collection available; follow instructions provided by the collection team.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing inherited carnitine deficiency, especially in families with a history of metabolic disorders, enabling early intervention and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive (Mutation Detected)
Likely pathogenic variant found; confirms genetic basis for carnitine deficiency. Consult a geneticist for management.
Negative (No Mutation Detected)
No pathogenic variants identified; symptoms may have other causes. Clinical correlation is advised.
Variant of Uncertain Significance (VUS)
Variant found but significance unknown; repeat testing or family studies may be needed.
If experiencing symptoms such as fatigue, muscle weakness, or heart issues, or if there is a family history of carnitine deficiency. Consult a healthcare provider or genetic counselor after receiving test results.
Limitations
- ⚠May not detect all rare or novel variants in the SLC22A5 gene.
- ⚠Results require correlation with clinical symptoms and other diagnostic tests.
- ⚠Genetic counseling is recommended for interpretation and family planning.
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising.
- ●No significant medical risks; genetic testing has no physical side effects.
Compare With Similar Tests
| Test | SLC22A5 Gene Carnitine deficiency NGS Genetic Test | Carnitine Level Blood Test | Acylcarnitine Profile Test | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | SLC22A5 Gene Carnitine deficiency NGS Genetic Test | Measures carnitine levels in blood; less specific than genetic testing for identifying root cause. | Evaluates carnitine metabolites; useful for screening but does not identify specific gene mutations. | Broader genetic test; may detect SLC22A5 mutations among others, but more expensive and complex. |
Frequently Asked Questions
What is the SLC22A5 Gene Carnitine Deficiency NGS Genetic Test?
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