GCH1 Gene DYT5A NGS Genetic Test
Short Name: GCH1 DYT5A
Also known as: Segawa Syndrome Test, Dopa-Responsive Dystonia Genetic Test, GTP Cyclohydrolase 1 Gene Test, DYT5a NGS Test
GCH1 Gene DYT5A 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 Reports are delivered within 3 to 4 weeks of the sample reaching 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
To identify pathogenic variants in the GCH1 gene associated with DYT5A/Segawa Syndrome and to support clinical diagnosis, treatment planning, genetic counselling and family screening.
- Test Code
- 4026
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks of the sample reaching the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session may be arranged to draw a pedigree chart and document family history. Please share the patient's clinical history and any previous genetic testing reports with the laboratory.
Method: Venous blood draw or one-drop blood on FTA card
Laboratory Analysis
A trained technician will collect a small blood sample from a vein in the arm. If an FTA card is used, one drop of blood will be placed on the card and allowed to dry.
Report Delivery
The sample will be sent to the laboratory for NGS analysis. Reports are usually available within 3 to 4 weeks. You will be notified when the report is ready to download.
Timeline: Reports are delivered within 3 to 4 weeks of the sample reaching the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the GCH1 gene associated with DYT5A/Segawa Syndrome and to support clinical diagnosis, treatment planning, genetic counselling and family screening.
How to Prepare
- For blood sample: 2 mL in an EDTA vacutainer
- For FTA card: one drop of blood applied to the FTA card and air dried
- For extracted DNA: please contact the lab for the required quantity and quality specifications
- Label the sample correctly with the patient's full name and date of birth
- Maintain the sample at room temperature if it is to be transported on the same day, otherwise follow the courier instructions provided
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"DYT5A is one of the few movement disorders where a genetic diagnosis can lead to effective treatment with levodopa, making timely genetic testing especially valuable."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient DNA quantity or quality
- Improperly labeled or unlabeled sample
- Sample exposed to extreme temperatures or delayed transport beyond acceptable time
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was detected in the GCH1 gene.
Action: If symptoms persist, consider other genetic or non-genetic causes of dystonia.
Positive
A pathogenic or likely pathogenic variant was detected in the GCH1 gene.
Action: Clinical correlation is advised. The result supports a diagnosis of DYT5A and may guide treatment with levodopa and family testing.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its disease-causing role is not yet clear.
Action: Additional family studies, segregation analysis and correlation with clinical findings are recommended.
Incomplete test / Technical failure
The test did not provide a complete result due to sample or technical issues.
Action: A repeat test may be required.
If you or your child have unexplained dystonia, tremors, gait disturbance, muscle stiffness or speech difficulties, especially if symptoms began in childhood or adolescence, consult a neurologist or clinical geneticist. Genetic counselling is recommended before and after testing.
Limitations
- ⚠This test analyses only the GCH1 gene and may not detect all possible mutations such as deep intronic variants or large rearrangements unless clearly covered and reported
- ⚠A negative result does not exclude all causes of dystonia
- ⚠Variants of uncertain significance (VUS) may be reported and require additional family studies
- ⚠Results should be interpreted by a qualified specialist in correlation with clinical findings
- ⚠This test is not intended for population-level screening
Risks & Considerations
- ●Minor bleeding or bruising at the blood collection site
- ●Dizziness or lightheadedness during blood draw
- ●Rare infection at the venipuncture site
- ●Possible psychological distress upon learning genetic findings
Interfering Factors
- ●Sample contamination during collection
- ●Poor DNA quality or low DNA concentration
- ●Mislabeled or cross-contaminated samples
- ●Bone marrow transplant or stem cell transplant-associated chimerism
- ●Incomplete clinical history limiting interpretation
Compare With Similar Tests
| Test | GCH1 Gene DYT5A NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | GCH1 Gene DYT5A NGS Genetic Test |
Frequently Asked Questions
What is the GCH1 Gene DYT5A NGS Genetic Test?
What is the cost of this test at DNA Labs India?
What type of sample is required?
Do I need to fast before the test?
When will I get my report?
What does a positive result mean?
Are raw data files provided?
Who should consider this test?
Is home sample collection available?
How accurate is NGS for detecting GCH1 mutations?
Is genetic counselling included?
Can a negative result completely rule out DYT5A?
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