SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test
Short Name: SLC6A8 Gene Test
Also known as: X-linked creatine deficiency syndrome, Cerebral creatine deficiency syndrome 1 (CCDS1)
SLC6A8 Gene Creatine deficiency syndrome X-linked 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 this test is to identify mutations in the SLC6A8 gene that cause creatine deficiency syndrome, enabling accurate diagnosis, informed family planning, and targeted management of symptoms such as developmental delays, seizures, and muscle disorders.
- Test Code
- 1957
- 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 family pedigree chart as part of genetic counseling.
Method: Venipuncture or FTA Card Blood Drop
Laboratory Analysis
Blood sample collected via venipuncture or a single blood drop on FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site; samples are processed at an accredited lab for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the SLC6A8 gene that cause creatine deficiency syndrome, enabling accurate diagnosis, informed family planning, and targeted management of symptoms such as developmental delays, seizures, and muscle disorders.
How to Prepare
- Avoid eating or drinking for 30 minutes before blood draw if using FTA card
- Ensure proper labeling of sample tubes
- Home collection available across India
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for SLC6A8 mutations is crucial for timely management of symptoms and family counseling in suspected cases of X-linked creatine deficiency syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood
- Incorrect sample labeling
Understanding Your Results
Confirms SLC6A8 gene creatine deficiency syndrome; genetic counseling recommended.
Further testing or family studies may be needed for clarification.
SLC6A8 mutations unlikely; consider other metabolic disorders.
Consult a geneticist or neurologist if you or your child exhibit symptoms like developmental delays, seizures, or muscle weakness, especially with a family history of X-linked disorders.
Limitations
- ⚠Cannot detect all possible mutations in the SLC6A8 gene
- ⚠May require confirmatory testing for certain variants
- ⚠Does not assess creatine levels directly
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis
Interfering Factors
- ●Contaminated DNA sample
- ●Hemolyzed blood specimen
Frequently Asked Questions
What is SLC6A8 Gene Creatine Deficiency Syndrome?
Who should consider getting this genetic test?
How is the test performed?
What is the cost of the SLC6A8 Gene NGS Genetic Test in India?
Is home sample collection available?
How long does it take to get the test results?
Is fasting required before the test?
What do the test results indicate?
Is there a cure for SLC6A8 Gene Creatine Deficiency Syndrome?
Can this condition be inherited?
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