SLC17A5 Gene Sialuria, finish type NGS Genetic Test
Short Name: SLC17A5 Sialuria NGS Test
Also known as: Sialuria, Sialic acid storage disorder
SLC17A5 Gene Sialuria, finish type 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. 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 the SLC17A5 Gene Sialuria NGS Genetic Test is to diagnose sialuria by detecting mutations in the SLC17A5 gene using advanced sequencing technology. It helps confirm clinical suspicions, identify carriers, and guide treatment and genetic counseling for affected individuals and their families.
- Test Code
- 4555
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart. No specific preparation is required, but ensure proper identification and consent.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture, or an extracted DNA or FTA card sample may be used. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and await processing.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SLC17A5 Gene Sialuria NGS Genetic Test is to diagnose sialuria by detecting mutations in the SLC17A5 gene using advanced sequencing technology. It helps confirm clinical suspicions, identify carriers, and guide treatment and genetic counseling for affected individuals and their families.
How to Prepare
- Ensure patient identification is accurate
- Use sterile equipment for blood collection
- Label samples correctly
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for SLC17A5 gene mutations is crucial for timely diagnosis and management of sialuria, helping to guide treatment and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Incorrect labeling
- Insufficient sample volume
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of SLC17A5 gene sialuria. Genetic counseling and management planning are recommended.
Negative for pathogenic mutation
No mutations detected in the SLC17A5 gene. Clinical correlation and additional testing may be needed if symptoms persist.
Variant of uncertain significance
A genetic variant was found but its clinical significance is unclear. Further family studies and follow-up are advised.
Consult a genetic counselor or neurologist if you experience symptoms such as developmental delay, seizures, or joint pain, or if you have a family history of sialuria. After testing, discuss results with a healthcare provider for appropriate management.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results, addressed through counseling
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection or processing
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | SLC17A5 Gene Sialuria, finish type NGS Genetic Test | Whole Exome Sequencing | Sialic Acid Level Test | Enzyme Assay for Sialic Acid Metabolism | Chromosomal Microarray |
|---|---|---|---|---|---|
| Comparison | SLC17A5 Gene Sialuria, finish type NGS Genetic Test |
Frequently Asked Questions
What is SLC17A5 gene sialuria?
What are the common symptoms of this condition?
How is SLC17A5 gene sialuria diagnosed?
What is the cost of the NGS Genetic Test at DNA Labs India?
Is home sample collection available for this test?
How long does it take to get the test results?
Is the NGS test accurate for detecting mutations?
Can this test identify carriers of the mutation?
What should I do before getting tested?
Are there any risks associated with the test?
Is genetic counseling included with the test?
How do I book the SLC17A5 Gene Sialuria NGS Test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.