SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test
Short Name: SLC6A9 Glycine Encephalopathy NGS Test
Also known as: Glycine encephalopathy type 2, Nonketotic hyperglycinemia with normal serum glycine, SLC6A9-related glycine encephalopathy
SLC6A9 Gene Glycine encephalopathy with normal serum glycine 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 SLC6A9 gene glycine encephalopathy NGS genetic test is to identify mutations in the SLC6A9 gene for accurate diagnosis of glycine encephalopathy, particularly in cases with normal serum glycine levels. This test helps confirm the genetic basis of the disorder, guide treatment decisions, assess recurrence risks for family planning, and differentiate from other neurological conditions.
- Test Code
- 4686
- 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
No specific preparation required. Provide clinical history and family pedigree chart as advised during genetic counseling.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be collected via venipuncture or finger-prick. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as per instructions before transport.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SLC6A9 gene glycine encephalopathy NGS genetic test is to identify mutations in the SLC6A9 gene for accurate diagnosis of glycine encephalopathy, particularly in cases with normal serum glycine levels. This test helps confirm the genetic basis of the disorder, guide treatment decisions, assess recurrence risks for family planning, and differentiate from other neurological conditions.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- 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 SLC6A9 mutations is crucial for accurate diagnosis and management of glycine encephalopathy, guiding treatment and family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect labeling
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Confirms diagnosis of SLC6A9-related glycine encephalopathy. Genetic counseling and management planning recommended.
Result type: Pathogenic variant detected
Strong indication of genetic cause. Further family studies and clinical correlation advised.
Result type: Likely pathogenic variant detected
Variant significance unclear. Repeat testing or additional studies may be needed.
Result type: Variant of uncertain significance (VUS)
SLC6A9 mutations not identified. Consider other genetic or metabolic causes.
Result type: No pathogenic variant detected
Consult a geneticist or neurologist if symptoms of glycine encephalopathy are present, such as seizures, developmental delay, or hypotonia, especially with a family history of metabolic disorders.
Limitations
- ⚠May not detect all possible genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results may be inconclusive in some cases
- ⚠Does not assess other genes involved in glycine metabolism
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Insufficient sample volume
- ●Recent blood transfusion
Compare With Similar Tests
| Test | SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test | SLC6A3 Gene Test | GLDC Gene Test | Whole Exome Sequencing | Metabolic Panel |
|---|---|---|---|---|---|
| Comparison | SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test | Focuses on dopamine transporter; not specific for glycine encephalopathy. | Detects mutations in glycine decarboxylase; relevant for other forms of glycine encephalopathy. | Broader genetic analysis; may identify mutations in multiple genes but higher cost. | Measures metabolites like glycine; may not detect genetic mutations directly. |
Frequently Asked Questions
What is glycine encephalopathy?
What causes glycine encephalopathy with normal serum glycine?
What are the common symptoms of this condition?
How is glycine encephalopathy diagnosed?
What is NGS genetic testing?
Who should consider this genetic test?
Is the test painful?
How long does it take to get results?
What is the cost of the SLC6A9 gene test?
Is home sample collection available?
What should I do after receiving the results?
Are there any risks associated with the test?
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