SLC6A19 Gene Hartnup disorder NGS Genetic Test
Short Name: Hartnup Disorder NGS Test
Also known as: Hartnup Disease Genetic Test, SLC6A19 Mutation Analysis
SLC6A19 Gene Hartnup disorder 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 from sample receipt at the laboratory.. 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
The purpose of this test is to identify mutations in the SLC6A19 gene that cause Hartnup Disorder, enabling accurate diagnosis, management, and genetic counseling.
- Test Code
- 2065
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Genetic counseling session recommended to discuss test implications, family history, and potential outcomes.
Method: Blood Draw
Laboratory Analysis
A small blood sample is drawn from the vein in the arm using standard phlebotomy procedures.
Report Delivery
Apply pressure to the puncture site to stop bleeding; the sample is then sent to the laboratory for analysis.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the SLC6A19 gene that cause Hartnup Disorder, enabling accurate diagnosis, management, and genetic counseling.
How to Prepare
- Fasting is not required
- Ensure proper labeling and identification of the sample
- Use sterile collection equipment
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early detection of Hartnup Disorder through genetic testing can inform treatment strategies and assist in family planning for at-risk individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume for testing
Understanding Your Results
Negative
No pathogenic variants detected in the SLC6A19 gene, reducing the likelihood of Hartnup Disorder.
Positive
Pathogenic variant(s) detected, confirming a diagnosis of Hartnup Disorder or carrier status, requiring clinical correlation.
Consult a geneticist or healthcare provider if symptoms suggestive of Hartnup Disorder are present, for family planning if carrier status is identified, or if test results indicate a positive finding.
Limitations
- ⚠May not detect large structural variations or deep intronic mutations
- ⚠Requires genetic counseling for proper interpretation of results
Risks & Considerations
- ●Minor pain, bruising, or swelling at the blood draw site
- ●Very rare risk of infection at the puncture site
Interfering Factors
- ●DNA degradation in sample
- ●Contamination during sample collection or processing
Compare With Similar Tests
| Test | SLC6A19 Gene Hartnup disorder NGS Genetic Test | Hartnup Disorder Diagnostic Panel | SLC6A19 Gene Sequencing Only |
|---|---|---|---|
| Comparison | SLC6A19 Gene Hartnup disorder NGS Genetic Test | A broader panel that may include multiple genes associated with amino acid transport disorders. | Targeted sequencing of the SLC6A19 gene, similar to this test but may have different coverage or methodology. |
Frequently Asked Questions
What is Hartnup Disorder?
What causes Hartnup Disorder?
What are the common symptoms of Hartnup Disorder?
How is Hartnup Disorder diagnosed?
What does the SLC6A19 Gene NGS Test involve?
Is the NGS genetic test painful?
How accurate is the SLC6A19 Gene Test?
Can Hartnup Disorder be treated?
Is genetic testing recommended for family members?
What does a positive test result mean?
How long does it take to get the test results?
Is home sample collection available for this test?
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