PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test
Short Name: PSEN1 NGS Test
Also known as: PSEN1 Gene Sequencing, Presenilin 1 Gene Mutation Analysis, Early-Onset Alzheimer Disease Genetic Test
PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood / Extracted DNA / FTA Card Blood Spot samples. Results in 3 to 4 weeks from sample receipt. Clinical report and raw data files are shared securely.. 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
To identify pathogenic variations in the PSEN1 gene using NGS, confirm or rule out a genetic cause of early-onset Alzheimer disease type 3, and support clinical decision-making, family risk assessment, and genetic counselling.
- Test Code
- 3871
- ICD Code
- G30.0
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / FTA Card Blood Spot
- Result Time
- 3 to 4 weeks from sample receipt. Clinical report and raw data files are shared securely.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No fasting is required. The treating physician will explain the purpose, benefits, and limitations. A genetic counseling session may be arranged. Please bring family history records, previous MRI/PET brain imaging reports and cognitive assessment documents.
Method: Venipuncture or Finger-prick Spot on FTA Card
Laboratory Analysis
A trained professional will collect the sample. For blood, a small amount is drawn from the arm. For FTA card, a simple finger prick is enough. The procedure is quick and carries minimal discomfort.
Report Delivery
You can leave immediately after sample collection. No specific restrictions are required. You will be informed when the report is ready, usually within 3-4 weeks. A follow-up consultation is recommended to understand the result.
Timeline: 3 to 4 weeks from sample receipt. Clinical report and raw data files are shared securely.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variations in the PSEN1 gene using NGS, confirm or rule out a genetic cause of early-onset Alzheimer disease type 3, and support clinical decision-making, family risk assessment, and genetic counselling.
How to Prepare
- No fasting or dietary restriction is needed.
- Wear comfortable clothing with access to the arm for blood collection.
- For FTA card collection, a finger prick blood spot can be collected by trained staff or at home kit.
- Ensure the FTA card is air-dried and placed in the provided envelope if applicable.
- For extracted DNA sample, use a sterile DNase-free tube and label with patient name and date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A positive or uncertain genetic result can affect the whole family. It is important that patients meet a genetic counsellor before testing to discuss inheritance, penetrance, and options such as predictive testing and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample if anticoagulant was required.
- Improperly labelled or misidentified sample.
- Hemolysed blood sample that compromises DNA extraction.
- Samples received in formalin or any chemical fixative.
Understanding Your Results
Positive (Pathogenic or Likely Pathogenic variant detected)
This result is consistent with a predisposition to Alzheimer disease type 3. It does not provide the exact age of onset or severity.
Negative (No pathogenic variant detected)
No PSEN1 mutation was found. This does not rule out Alzheimer disease due to other genetic or nongenetic causes.
Variant of Uncertain Significance (VUS)
A DNA change was found whose clinical significance is unknown. Additional family studies may help classify this variant.
Consult a neurologist or clinical geneticist if the report shows a pathogenic/likely pathogenic variant or VUS, if symptoms are worsening, or before making medical/lifestyle decisions based on the result.
Limitations
- ⚠This test only analyzes PSEN1 and does not cover all genes associated with Alzheimer disease.
- ⚠Standard NGS may not reliably detect large deletions/duplications, deep intronic variants, or trinucleotide expansions.
- ⚠A variant of uncertain significance does not provide definitive risk information.
- ⚠Results should not be used as a standalone diagnosis for sporadic Alzheimer disease.
Risks & Considerations
- ●Minor bruising, pain, or bleeding at the blood draw site.
- ●Emotional distress from receiving a positive or uncertain genetic result.
- ●Psychological or social implications for family members.
Interfering Factors
- ●Incorrect sample collection, anticoagulant mismatch, or hemolysis can affect DNA quality.
- ●Incomplete family history may impede interpretation of variant significance.
- ●Very low-level mosaicism may not be detected by standard NGS.
- ●Large structural rearrangements may not be identified by routine targeted NGS.
Compare With Similar Tests
| Test | PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test | Caused by PSEN2 mutations; less frequent than PSEN1 and may have later onset. Requested when familial history is unclear. | Caused by APP mutations; can present with early-onset familial Alzheimer disease. Often tested alongside PSEN1. | Includes PSEN1, PSEN2, APP and other dementia-related genes; appropriate when a specific gene is not clinically obvious. |
Frequently Asked Questions
What is the PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test?
What is the cost of this PSEN1 NGS genetic test in India?
What sample is required for the PSEN1 gene test?
Do I need to fast before this genetic test?
How long does the PSEN1 gene report take?
If a PSEN1 mutation is found, will I definitely develop Alzheimer disease?
Who should consider this test?
What are PSEN1, PSEN2 and APP genes?
Can this test distinguish Alzheimer disease from other dementias?
Is home sample collection available for this test?
What does a negative result mean?
Do I need genetic counselling before this test?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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