ATP6AP2 Gene Parkinsonism with spasticity, X-linked NGS Genetic Test
Short Name: ATP6AP2 NGS Genetic Test
Also known as: ATP6AP2 gene sequencing, X-linked parkinsonism-spasticity genetic test, ATP6AP2 mutation analysis
ATP6AP2 Gene Parkinsonism with spasticity, 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 Reports are generally available 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 confirm or exclude a pathogenic variant in the ATP6AP2 gene associated with X-linked parkinsonism with spasticity. It is also used for carrier testing and reproductive counselling in families with a known ATP6AP2 disease-causing variant.
- Test Code
- 4444
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry any relevant clinical records, imaging reports, and family history details. A genetic counselling session is completed before sample collection to draw a pedigree chart of affected family members.
Method: Peripheral blood draw / dried blood spot on FTA card
Laboratory Analysis
A peripheral blood sample may be collected in an EDTA tube. Alternative samples include one drop of blood on an FTA card or extracted DNA. The collection is quick and does not require any special preparation.
Report Delivery
No specific precautions are required after sample collection. Patients can resume routine activities. Reports are generally available in 3 to 4 weeks.
Timeline: Reports are generally available 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 confirm or exclude a pathogenic variant in the ATP6AP2 gene associated with X-linked parkinsonism with spasticity. It is also used for carrier testing and reproductive counselling in families with a known ATP6AP2 disease-causing variant.
How to Prepare
- No fasting required.
- Blood sample should be collected in an EDTA tube.
- FTA card samples should be labelled correctly and allowed to dry.
- Extracted DNA must be stored in a sterile molecular-grade tube.
- Samples should be transported to the laboratory as per instructions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In X-linked parkinsonism with spasticity, a confirmed familial ATP6AP2 variant allows accurate carrier testing and reproductive counselling. Couples should discuss recurrence risk and prenatal testing options with their genetic counsellor."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled sample
- Clotted or haemolysed blood sample
- Insufficient sample quantity
- Sample exposed to extreme heat or repeated freeze-thaw cycles
- Incorrect sample collection tube
Understanding Your Results
No pathogenic or likely pathogenic variant was detected in ATP6AP2. This does not rule out all genetic causes of parkinsonism with spasticity.
Result type: Negative
A pathogenic or likely pathogenic ATP6AP2 variant was identified, confirming the molecular diagnosis and enabling testing of at-risk family members.
Result type: Positive
A DNA change was identified whose effect on protein function is not yet known. Additional testing of family members may help clarify its significance.
Result type: Variant of uncertain significance (VUS)
A female may carry one altered ATP6AP2 allele. Phenotypic expression can be variable, and genetic counselling is strongly recommended.
Result type: Carrier female heterozygote
If a pathogenic ATP6AP2 variant is identified, or if you or a family member develop unexplained rigidity, tremor, spasticity, or gait disturbance, consult a neurologist and a clinical geneticist for formal evaluation, management, and family counselling.
Limitations
- ⚠This NGS test may not detect all types of ATP6AP2 gene variants, such as large deletions/duplications or deep intronic variants.
- ⚠A negative result does not completely exclude a genetic cause, as variants in other genes can also cause parkinsonism with spasticity.
- ⚠Variant of uncertain significance (VUS) results may require additional family segregation studies for interpretation.
- ⚠Genetic test results should always be interpreted in the context of clinical symptoms and family history.
Risks & Considerations
- ●Minor pain, bruising, or bleeding at the blood collection site
- ●Very low risk of local infection
- ●Psychological impact of genetic results
- ●Potential implications for other family members
Interfering Factors
- ●Sample mix-up or contamination
- ●Insufficient DNA quantity or quality
- ●Maternal cell contamination in prenatal or potentially mixed samples
- ●Recent bone marrow transplant or blood transfusion can affect DNA testing results
- ●Very large deletions, duplications, or structural rearrangements may not be detected by NGS alone
Frequently Asked Questions
What is the ATP6AP2 gene parkinsonism with spasticity test?
Why is this test recommended?
What sample is needed for this test?
Do I need to fast before this test?
How much does the ATP6AP2 genetic test cost in India?
Is home sample collection available?
When will I get the reports?
Is genetic counselling included?
What can the result tell me?
Who should be tested for ATP6AP2-related parkinsonism with spasticity?
Can this test be used for prenatal diagnosis?
Is this genetic test covered by insurance?
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