PSEN1 Gene Pick disease NGS Genetic Test
Short Name: PSEN1 NGS Genetic Test
Also known as: PSEN1 Gene Mutation Analysis, Pick Disease Genetic Test, Frontotemporal Dementia NGS Panel
PSEN1 Gene Pick disease 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 The test results are typically available in 3 to 4 weeks from the date the sample is received at 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 NGS genetic test is to detect pathogenic variants in the PSEN1 gene that are associated with Pick disease (frontotemporal dementia). It is used for confirmation of a clinical diagnosis, presymptomatic testing in at-risk family members, and for informing reproductive decisions. The test also provides raw sequencing data for transparency and secondary analysis.
- Test Code
- 4457
- ICD Code
- G31.01
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The test results are typically available in 3 to 4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. A genetic counseling session is recommended before the test to draw a pedigree chart and discuss the implications of the results.
Method: Peripheral blood draw or FTA card sample
Laboratory Analysis
Blood sample is collected in an EDTA tube, or FTA card is spotted with one drop of blood. The procedure is quick and minimally invasive.
Report Delivery
The sample is labeled and transported to the laboratory. You can resume normal activities immediately. The report will be available in 3 to 4 weeks.
Timeline: The test results are typically available in 3 to 4 weeks from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the PSEN1 gene that are associated with Pick disease (frontotemporal dementia). It is used for confirmation of a clinical diagnosis, presymptomatic testing in at-risk family members, and for informing reproductive decisions. The test also provides raw sequencing data for transparency and secondary analysis.
How to Prepare
- Inform the lab if you have had a blood transfusion or bone marrow transplant.
- Ensure the sample vial or FTA card is correctly labeled with your name, date and time of collection.
- If providing extracted DNA, ensure it is accompanied by appropriate documentation.
- A valid doctor's prescription is required for genetic testing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A PSEN1 genetic test can help families understand the hereditary nature of Pick disease and guide reproductive and management decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Improperly labeled or unlabeled sample
- Sample received in a wrong container
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of PSEN1-related Pick disease / frontotemporal dementia. Predictive testing for at-risk family members is possible.
Likely pathogenic variant detected
Strongly suggests disease causation; family segregation studies may be advised to confirm.
Variant of uncertain significance (VUS)
The variant is not known to be disease-causing; additional family testing and functional studies may be required.
No pathogenic mutation detected
Reduces but does not completely exclude the possibility of Pick disease; other genetic or non-genetic causes should be considered.
If you or a family member have symptoms suggestive of frontotemporal dementia (personality changes, language difficulties, cognitive decline) or a known family history of PSEN1 mutation, consult a neurologist and a clinical geneticist. Genetic counseling is essential before undertaking this test.
Limitations
- ⚠NGS may not detect all types of mutations (e.g., large structural variants, trinucleotide repeat expansions) depending on the assay design.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Presymptomatic testing should only be performed with formal genetic counseling.
- ⚠This test is not intended for legal or forensic purposes.
Risks & Considerations
- ●No significant physical risks are associated with blood collection
- ●Psychological distress due to positive results
- ●Potential family implications and ethical considerations
- ●Discrimination risk if genetic test results are misused (genetic information is protected by law)
Interfering Factors
- ●Contamination of sample during collection
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detectable by standard NGS
- ●Patient has undergone bone marrow transplant (affects DNA analysis)
Compare With Similar Tests
| Test | PSEN1 Gene Pick disease NGS Genetic Test | MAPT Gene NGS Test | GRN Gene NGS Test | C9orf72 Repeat Expansion Test | APOE Genotyping |
|---|---|---|---|---|---|
| Comparison | PSEN1 Gene Pick disease NGS Genetic Test |
Frequently Asked Questions
What is the cost of the PSEN1 gene NGS test in India?
What sample is required for the PSEN1 gene NGS test?
Does the test require fasting?
What is the turnaround time for this test?
What is the significance of the PSEN1 gene in Pick disease?
Can this test tell me if I will develop Pick disease in the future?
What does a positive result mean?
Is genetic counseling recommended?
Does DNA Labs India provide raw data files?
Are there any risks in having this test?
Is this test covered by insurance?
Which cities are covered for home sample collection?
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