PSEN2 Gene Alzheimer Disease Type 4 NGS Genetic Test
Short Name: PSEN2 NGS Test
Also known as: PSEN2 Gene Mutation Analysis, Presenilin-2 Gene Sequencing, Alzheimer Disease Type 4 Genetic Test, PSEN2-Related Alzheimer Disease NGS Test
PSEN2 Gene Alzheimer Disease Type 4 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 Results are usually available in 3 to 4 weeks. This duration includes DNA extraction, quality control, NGS sequencing, data analysis, variant interpretation, and report preparation.. 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 main purpose of this NGS genetic test is to identify disease-causing variants in the PSEN2 gene. This helps confirm whether a person's early-onset dementia is related to PSEN2-associated Alzheimer disease type 4. It also enables more informed recurrence risk counselling for family members. The test should not be used for general population screening or as a stand-alone diagnostic tool without clinical evaluation.
- Test Code
- 3873
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are usually available in 3 to 4 weeks. This duration includes DNA extraction, quality control, NGS sequencing, data analysis, variant interpretation, and report preparation.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The treating doctor should provide a referral and clinical history. A genetic counseling session is recommended before the test to draw a pedigree chart and discuss possible results and implications.
Method: Peripheral blood draw / dried blood spot on FTA card / submitted DNA sample
Laboratory Analysis
A small blood sample will be collected in an EDTA tube by a trained phlebotomist. If an FTA card is used, one drop of blood is applied to the marked circles and allowed to air-dry.
Report Delivery
There are no activity restrictions after sample collection. The sample is transported to the laboratory in a temperature-controlled packaging. The laboratory will process the sample for DNA extraction, NGS library preparation, sequencing, bioinformatics analysis, and clinical reporting.
Timeline: Results are usually available in 3 to 4 weeks. This duration includes DNA extraction, quality control, NGS sequencing, data analysis, variant interpretation, and report preparation.
Patient Instructions
About This Test
Who Should Get This Test
The main purpose of this NGS genetic test is to identify disease-causing variants in the PSEN2 gene. This helps confirm whether a person's early-onset dementia is related to PSEN2-associated Alzheimer disease type 4. It also enables more informed recurrence risk counselling for family members. The test should not be used for general population screening or as a stand-alone diagnostic tool without clinical evaluation.
How to Prepare
- No fasting required.
- Carry valid identification and referral letter.
- Inform the laboratory about any known genetic variant in the family.
- Free home sample collection can be scheduled by booking online.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A PSEN2 variant has implications for the whole family. I strongly encourage any referring physician to include pretest genetic counseling, and if a pathogenic variant is found, to arrange post-test counseling for the patient and at-risk relatives."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample quantity insufficient.
- Sample tube without patient identifiers.
- Clotted sample or empty tube.
- FTA card not dried or contaminated.
- Incomplete test requisition or missing consent.
Understanding Your Results
Consistent with a molecular diagnosis of PSEN2-related Alzheimer disease type 4. Genetic counseling is recommended for the patient and family members.
Result type: Pathogenic / Likely pathogenic variant detected
A PSEN2-related cause is unlikely, but Alzheimer disease due to other genetic or non-genetic causes cannot be ruled out.
Result type: No pathogenic / likely pathogenic variant detected
The clinical significance is currently unknown. Testing of affected or at-risk family members may help reclassify the variant in the future.
Result type: Variant of uncertain significance (VUS)
The variant is not considered disease-causing. Clinical evaluation should continue based on symptoms and other risk factors.
Result type: Benign / Likely benign variant detected
If you or a relative have early-onset memory loss, unexplained confusion, behavioral changes, or a known family history of PSEN2-related Alzheimer disease, consult a neurologist or clinical geneticist for assessment. Genetic test results should also be discussed with a doctor before making medical or family-planning decisions.
Limitations
- ⚠This test analyses only the PSEN2 gene; variants in PSEN1, APP, MAPT, GRN, C9orf72, and other dementia-associated genes are not covered.
- ⚠A negative result does not exclude Alzheimer disease or another form of dementia.
- ⚠Variants of uncertain significance may be reported and may require additional family studies.
- ⚠Routine NGS may not detect all types of genetic changes, such as large copy-number variants or deep intronic variants.
- ⚠Predictive testing in asymptomatic individuals should only be performed with formal genetic counseling and informed consent.
Risks & Considerations
- ●Minor pain or bruising at the blood draw site.
- ●Dizziness or light-headedness during blood collection.
- ●Very low risk of infection or bleeding.
- ●Psychological or emotional impact of predictive genetic information.
- ●Potential implications for family relationships and insurability if predictive testing is performed.
Interfering Factors
- ●Recent allogeneic bone marrow transplant or hematopoietic stem cell transplant may cause blood-derived DNA to match the donor rather than the person being tested.
- ●Poor DNA quality or quantity due to improper sample storage or transport can affect sequencing.
- ●Sample contamination or mislabelling can lead to unreliable results.
- ●The presence of a large deletion, duplication, or structural rearrangement involving PSEN2 may not be detected by routine NGS.
Compare With Similar Tests
| Test | PSEN2 Gene Alzheimer Disease Type 4 NGS Genetic Test | PSEN2 Single-Gene NGS | Early-Onset Alzheimer Disease Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | PSEN2 Gene Alzheimer Disease Type 4 NGS Genetic Test |
Frequently Asked Questions
What is the PSEN2 Gene Alzheimer Disease Type 4 NGS Genetic Test?
What is the cost of the PSEN2 gene test at DNA Labs India?
What type of sample is needed for this test?
Is fasting required before the test?
Who should take this test?
Which Alzheimer disease type is associated with PSEN2 mutations?
What does a negative test result mean?
What is a variant of uncertain significance (VUS)?
How long does it take to get the genetic test report?
Can this test be done on a healthy person to check future Alzheimer risk?
Is home sample collection available for this test?
How will I receive my genetic test report?
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