SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic Test
Short Name: SLC6A3 Parkinsonism-Dystonia NGS Test
Also known as: SLC6A3 Gene Sequencing Test, Dopamine Transporter Deficiency Syndrome NGS Test, Infantile Parkinsonism-Dystonia Genetic Test
SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation, if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after the sample reaches 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
The purpose of this test is to identify disease-causing variants in the SLC6A3 gene in individuals with clinical features of infantile Parkinsonism-Dystonia. A definitive molecular diagnosis helps in confirming the disease, understanding the inheritance pattern, estimating recurrence risk for the family and guiding clinical surveillance. This test is not intended for population screening and should be requested only after appropriate clinical and genetic counselling.
- Test Code
- 4447
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation, if required
Sample Collection
Pre-test genetic counselling and pedigree charting should be completed before the test. No fasting is required. The clinician should provide detailed clinical history, including age of onset, motor symptoms, developmental history and family information.
Method: Venipuncture or finger-prick/heel-prick on FTA card
Laboratory Analysis
Blood is collected using a sterile technique. For infants, a one-drop blood sample on an FTA card may be used after a small heel-prick. The sample should be labelled correctly and sent to the laboratory according to the provided collection kit instructions.
Report Delivery
No special precautions are needed after sample collection. The patient may resume normal activities. The sample will be transported to the laboratory at room temperature as per the recommended stability window.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing variants in the SLC6A3 gene in individuals with clinical features of infantile Parkinsonism-Dystonia. A definitive molecular diagnosis helps in confirming the disease, understanding the inheritance pattern, estimating recurrence risk for the family and guiding clinical surveillance. This test is not intended for population screening and should be requested only after appropriate clinical and genetic counselling.
How to Prepare
- No fasting is required before the test.
- Use an EDTA tube for whole blood collection and mix gently to prevent clotting.
- For FTA card collection, apply the blood spot and allow it to dry completely.
- Label the sample with the patient's name, unique ID, date and time of collection.
- Store the sample according to the instructions provided with the collection kit.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is useful when the clinical picture suggests SLC6A3-related dopamine transporter deficiency. After a pathogenic or likely pathogenic variant is identified in an affected child, both parents can be offered targeted carrier testing. Genetic counselling should be integrated before and after testing to explain recurrence risks, inheritance pattern and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled or unlabelled sample
- Clotted or haemolysed blood sample
- Insufficient sample quantity
- Sample leaking from container
- Sample exposed to extreme temperatures or beyond the recommended stability period
- DNA sample with poor integrity or quantity
Understanding Your Results
Confirms the molecular diagnosis of SLC6A3-related infantile Parkinsonism-Dystonia in a symptomatic individual when biallelic pathogenic variants are present.
Recommendation: Genetic counselling, family testing, recurrence risk assessment and management planning.
Supports a probable molecular diagnosis; additional segregation or functional studies may be needed.
Recommendation: Review with a clinical geneticist; consider testing parents and available relatives.
Current evidence is insufficient to determine whether the variant causes disease.
Recommendation: Consider further segregation analysis, RNA studies or additional genetic testing; clinical correlation is essential.
No reportable SLC6A3 variant identified; this does not exclude all genetic causes.
Recommendation: Discuss alternative diagnoses with a neurologist and clinical geneticist; broader movement disorder panels may be considered.
Consult a paediatric neurologist, clinical geneticist or genetic counsellor if a child has unexplained early-onset dystonia, parkinsonism, tremor, oculogyric crises or delayed motor milestones. Early multidisciplinary evaluation can help establish the correct diagnosis and guide management.
Limitations
- ⚠NGS may not detect all disease-causing variants, including deep intronic mutations, large structural rearrangements or repeat expansions.
- ⚠A variant of uncertain significance may require additional segregation analysis, RNA studies or functional assays.
- ⚠The absence of a detectable SLC6A3 mutation does not exclude all genetic causes of infantile parkinsonism-dystonia.
- ⚠For large deletions or duplications, additional dosage analysis such as MLPA may be recommended if clinically indicated.
Risks & Considerations
- ●Minimal risk of bruising, pain or infection at the venipuncture site
- ●Minor discomfort during finger-prick or heel-prick sample collection
- ●No significant medical risks are associated with genetic testing itself
Interfering Factors
- ●Recent allogeneic bone marrow transplant may lead to donor-derived DNA in blood and affect germline variant interpretation.
- ●Recent blood transfusion may introduce donor white blood cells and cause false-negative or ambiguous results in rare cases.
- ●Insufficient or degraded DNA can reduce sequencing quality.
- ●Extreme storage temperatures or prolonged transport delay may compromise sample integrity.
Compare With Similar Tests
| Test | SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic Test | SLC6A3 Single Gene Sanger Sequencing | Targeted SLC6A3 NGS Genetic Test | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic Test |
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