PINK1 Gene PARK6 Parkinson NGS Genetic Test
Short Name: PINK1 PARK6 NGS Test
Also known as: PARK6 Genetic Test, PINK1 Mutation Analysis, PINK1 Sequencing Test, Early-Onset Parkinson Genetic Test, PINK1 Gene Panel NGS
PINK1 Gene PARK6 Parkinson NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt. Reports are delivered via the online patient portal, registered email, and WhatsApp. Urgent processing may be available upon request at additional cost.. 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 PINK1 Gene PARK6 Parkinson NGS Genetic Test is performed to identify pathogenic or likely pathogenic mutations in the PINK1 gene that are associated with autosomal recessive early-onset Parkinson's disease. This test helps confirm a suspected genetic aetiology of Parkinson's disease, guides prognosis, facilitates family planning counselling, enables cascade testing of at-risk family members, and may assist in determining eligibility for gene-targeted therapeutic clinical trials.
- Test Code
- 1776
- CPT Code
- 81405
- ICD Code
- G20
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt. Reports are delivered via the online patient portal, registered email, and WhatsApp. Urgent processing may be available upon request at additional cost.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants
Sample Collection
A genetic counselling session will be conducted before sample collection to document family history and prepare a pedigree chart. No fasting is required. Provide full clinical history including onset of symptoms, medication history, and any prior neurological evaluations.
Method: Venipuncture / FTA Card finger-prick
Laboratory Analysis
A trained phlebotomist will collect 3–5 mL of venous blood in an EDTA (lavender-top) tube. Alternatively, one drop of blood may be collected on an FTA card. The procedure takes approximately 5–10 minutes.
Report Delivery
The sample will be labelled and transported at ambient room temperature to the laboratory. Results will be available within 3 to 4 weeks. Reports can be accessed via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt. Reports are delivered via the online patient portal, registered email, and WhatsApp. Urgent processing may be available upon request at additional cost.
Patient Instructions
About This Test
Who Should Get This Test
The PINK1 Gene PARK6 Parkinson NGS Genetic Test is performed to identify pathogenic or likely pathogenic mutations in the PINK1 gene that are associated with autosomal recessive early-onset Parkinson's disease. This test helps confirm a suspected genetic aetiology of Parkinson's disease, guides prognosis, facilitates family planning counselling, enables cascade testing of at-risk family members, and may assist in determining eligibility for gene-targeted therapeutic clinical trials.
How to Prepare
- Collect 3–5 mL whole blood in a lavender-top (EDTA) tube or provide one drop on an FTA Card
- Label the sample correctly with patient name, date of birth, and sample ID
- Transport at ambient room temperature (15–30°C); avoid extreme heat or cold
- If using an FTA card, allow the blood spot to dry completely before placing in the envelope
- If extracted DNA is submitted, ensure a minimum of 200 ng at a concentration of ≥20 ng/µL
- Do not use heparinised blood tubes as heparin can inhibit NGS library preparation enzymes
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"PINK1 mutations are among the most common genetic causes of early-onset Parkinson's disease, particularly in consanguineous families. Identifying a PINK1 mutation can guide prognosis, help assess familial recurrence risk, and may influence future eligibility for gene-specific clinical trials. I recommend this test for patients presenting with Parkinsonian symptoms before age 50, especially with a family history of similar neurological conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparinised tube
- Haemolysed or clotted EDTA sample
- Insufficient sample volume (less than 2 mL)
- Missing or mismatched patient identification labels
- FTA card with insufficient blood or improperly dried sample
- Extracted DNA with concentration below 10 ng/µL
Understanding Your Results
No Pathogenic Variant Detected
No mutations in the PINK1 gene were identified that are known to be associated with Parkinson's disease. This does not completely exclude a genetic basis for the condition, as mutations in other genes (LRRK2, GBA, PARK2, SNCA, PARK7) or unknown loci may still be responsible. Clinical correlation is advised.
Pathogenic or Likely Pathogenic Variant (Homozygous)
Two copies of a disease-causing mutation were identified, consistent with autosomal recessive PINK1-associated early-onset Parkinson's disease (PARK6). This supports a molecular diagnosis. Family members should be offered cascade genetic testing and counselling.
Pathogenic or Likely Pathogenic Variant (Compound Heterozygous)
Two different disease-causing mutations were identified on separate alleles of the PINK1 gene, consistent with autosomal recessive PARK6. Genetic counselling and family testing are recommended.
Single Pathogenic Variant Detected (Heterozygous Carrier)
One pathogenic mutation was identified. The individual is a carrier and is typically not expected to manifest the disease. However, carrier status has implications for offspring. Partner testing and genetic counselling are recommended.
Variant of Uncertain Significance (VUS)
A genetic variant was identified whose clinical significance is currently unknown. This result is not diagnostic. Correlation with clinical features, family co-segregation analysis, and periodic reclassification based on updated databases are advised.
Consult a neurologist or clinical geneticist if: (1) you experience tremors, stiffness, slowness of movement, or balance problems, especially before age 50; (2) there is a family history of Parkinson's disease or related movement disorders; (3) you receive a genetic test result indicating a pathogenic variant or VUS; or (4) you are considering predictive or pre-symptomatic testing as an at-risk family member.
Limitations
- ⚠This test does not detect large structural rearrangements with certainty in all cases
- ⚠Variants of uncertain significance (VUS) may be identified and require further evaluation
- ⚠This test does not cover deep intronic variants or regulatory region mutations outside the targeted area
- ⚠A negative result does not exclude Parkinson's disease caused by mutations in other genes or non-genetic factors
- ⚠Genetic results must always be interpreted in conjunction with clinical findings by a qualified specialist
Risks & Considerations
- ●Minimal physical risk: mild bruising or discomfort at the blood collection site
- ●Psychological risk: anxiety or distress related to genetic findings, particularly if a pathogenic variant or VUS is detected
- ●Privacy considerations: genetic information requires careful handling to prevent discrimination
- ●Cascade impact: results may have implications for blood relatives who have not consented to testing
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Blood sample contaminated or improperly stored during transport
- ●Recent blood transfusion within the past 30 days may affect results
- ●Heparinised blood samples can interfere with NGS library preparation
Compare With Similar Tests
| Test | PINK1 Gene PARK6 Parkinson NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | PINK1 Gene PARK6 Parkinson NGS Genetic Test | Both PINK1 and PARK2 cause autosomal recessive early-onset Parkinson's disease and act in the same mitophagy pathway. PARK2 mutations are more common overall, but PINK1 is more prevalent in certain populations. | LRRK2 mutations cause autosomal dominant Parkinson's disease, typically with later onset. PINK1 causes recessive disease with earlier onset. Testing strategy depends on inheritance pattern and age of onset. | GBA mutations increase Parkinson's risk but follow an autosomal dominant pattern with incomplete penetrance. GBA-associated PD often includes cognitive decline. PINK1-associated PD typically spares cognition. |
Frequently Asked Questions
What is the PINK1 Gene PARK6 Parkinson NGS Genetic Test?
Who should take the PINK1 Gene PARK6 Parkinson NGS Genetic Test?
What sample is required for the PINK1 Gene test?
Is fasting required before the PINK1 Gene test?
How long does it take to get the PINK1 Gene test results?
What does a positive PINK1 Gene test result mean?
Can a negative PINK1 Gene test rule out Parkinson's disease?
Is genetic counselling included with the PINK1 Gene test?
What is the cost of the PINK1 Gene PARK6 Parkinson NGS Genetic Test in India?
Does DNA Labs India share raw genetic data for the PINK1 Gene test?
Is the PINK1 Gene PARK6 test available for home sample collection?
Can the PINK1 Gene test be used for predictive or pre-symptomatic testing?
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