SLC2A1 Gene DYT8 NGS Genetic Test
Short Name: SLC2A1 DYT8 NGS
Also known as: SLC2A1 Gene Mutation Test, DYT8 Dystonia Genetic Test, SLC2A1 Sequencing Test
SLC2A1 Gene DYT8 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 In 3 to 4 weeks after sample receipt, a definitive clinical report is issued. Raw data files are also provided along with the report.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of the SLC2A1 Gene DYT8 NGS Genetic Test is to confirm or exclude a molecular diagnosis of DYT8 caused by mutations in the SLC2A1 gene. This test is also useful for presymptomatic testing in at-risk family members when a pathogenic variant has been identified in the proband.
- Test Code
- 4035
- ICD Code
- G24.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- In 3 to 4 weeks after sample receipt, a definitive clinical report is issued. Raw data files are also provided along with the report.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. Carry any previous medical records, MRI/EEG reports, and family history details. Genetic counseling is recommended before the test.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample. If using the FTA card, a few drops of blood will be applied according to instructions.
Report Delivery
No restrictions. You may resume normal activities. The sample will be processed at the laboratory, and results will be shared within 3-4 weeks.
Timeline: In 3 to 4 weeks after sample receipt, a definitive clinical report is issued. Raw data files are also provided along with the report.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the SLC2A1 Gene DYT8 NGS Genetic Test is to confirm or exclude a molecular diagnosis of DYT8 caused by mutations in the SLC2A1 gene. This test is also useful for presymptomatic testing in at-risk family members when a pathogenic variant has been identified in the proband.
How to Prepare
- Use an EDTA blood collection tube.
- Label the tube with patient's full name, date of birth, and date of collection.
- If providing FTA card, allow the blood spot to dry completely prior to packing.
- Transport the sample to DNA Labs India at ambient temperature within 24 hours.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for inherited movement disorders is critical for family planning. As an Ob-Gyn, I recommend seeking genetic counseling before and after the test to understand recurrence risks and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Inadequate sample volume
- Improper labeling or missing paperwork
- Leaked or damaged sample container
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of DYT8 / GLUT1 deficiency. Genetic counseling and familial testing are recommended.
Variant of uncertain significance (VUS)
A variant has been identified but its clinical significance is unknown. Additional testing of family members or further functional studies may be needed.
No pathogenic variant detected
No causative SLC2A1 variant was found. This does not exclude DYT8, as other genes or variants (e.g., deep intronic) may be present.
Consult a neurologist if you experience episodes of involuntary muscle spasms, unusual postures, or tremors that occur without provocation. Also consult a clinical geneticist for pretest genetic counseling to understand the implications of testing and management options.
Limitations
- ⚠Targeted NGS only analyses the coding exons and splice sites of the SLC2A1 gene; deep intronic variants and large structural rearrangements may not be detected.
- ⚠Variants of uncertain significance (VUS) may be reported, which require further familial segregation analysis.
- ⚠This test does not rule out other genetic causes of paroxysmal dyskinesia. A negative result does not exclude the clinical diagnosis of DYT8.
Risks & Considerations
- ●Bruising or bleeding at the venipuncture site
- ●Discomfort during blood collection
- ●Psychological stress from potential positive or uncertain results
Interfering Factors
- ●Suboptimal DNA quality or quantity
- ●Sample contamination
- ●Recent bone marrow transplantation (in rare cases)
- ●Wrong sample collection tube or EDTA contamination
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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.
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