PSEN1 Gene Dementia, frontotemporal NGS Genetic Test
Short Name: PSEN1 Gene NGS Test
Also known as: PSEN1 Gene Mutation Analysis, Frontotemporal Dementia NGS Panel, PSEN1 Sequencing Test, Early-Onset Familial Dementia Genetic Test
PSEN1 Gene Dementia, frontotemporal 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 typically delivered in 3 to 4 weeks from sample receipt. In cases where Sanger confirmation is required, an additional week may be needed.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To detect disease-causing mutations in the PSEN1 gene in individuals with clinical features of PSEN1-associated dementia or frontotemporal dementia-like presentations, thereby confirming diagnosis and enabling accurate genetic counselling and risk assessment for family members.
- Test Code
- 4001
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically delivered in 3 to 4 weeks from sample receipt. In cases where Sanger confirmation is required, an additional week may be needed.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. EAT DRINK SLEEP AS NORMAL. Take your regular medications unless otherwise advised by your doctor. Carry a valid government ID and any previous clinical reports.
Method: Peripheral venous blood draw or dried blood spot on FTA card
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card collection, a simple finger-prick blood spot will be obtained. The process takes only a few minutes and is minimally invasive.
Report Delivery
You may resume all normal activities immediately. Contact the laboratory if you experience prolonged bleeding, dizziness, or discomfort at the site of collection.
Timeline: Results are typically delivered in 3 to 4 weeks from sample receipt. In cases where Sanger confirmation is required, an additional week may be needed.
Patient Instructions
About This Test
Who Should Get This Test
To detect disease-causing mutations in the PSEN1 gene in individuals with clinical features of PSEN1-associated dementia or frontotemporal dementia-like presentations, thereby confirming diagnosis and enabling accurate genetic counselling and risk assessment for family members.
How to Prepare
- For blood collection: use an EDTA vacutainer tube and fill to the indicated level
- If providing extracted DNA: ensure minimum 1 µg of high-quality genomic DNA in a sterile tube
- For FTA card: apply a single blood drop to each designated circle; allow to air-dry completely
- Label the sample with the patient's full name, date of birth, and collection date/time
- Transport samples at room temperature to the laboratory within 24 hours; avoid freezing whole blood
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for PSEN1 mutations is essential for families at risk of inherited dementia. A definitive diagnosis allows for informed reproductive decisions and early screening of at-risk relatives."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or severely haemolysed blood samples
- Incorrectly labelled or unlabelled samples
- Samples received beyond the stability window
- Quantity insufficient for NGS analysis
- Suspected contamination or mixed samples
Understanding Your Results
If a pathogenic or likely pathogenic variant is found, it is considered diagnostic for PSEN1-associated dementia. Genetic counselling and predictive testing of at-risk relatives are strongly recommended.
A VUS should not be used alone for clinical decision-making. Additional testing may include segregation analysis in family members, in-silico prediction, or functional studies.
A negative result does not exclude all genetic causes of dementia. Consider a broader dementia gene panel if clinical suspicion remains high.
Consult a neurologist or a clinical geneticist if you or a family member have early-onset dementia symptoms, a known familial PSEN1 mutation, or a history suggestive of inherited cognitive decline. Genetic testing should always be accompanied by pre-test and post-test genetic counselling.
Limitations
- ⚠Test covers only the PSEN1 gene and cannot detect mutations in other genes associated with dementia
- ⚠Large structural rearrangements, repeat expansions, or deep intronic variants may not be detected by this NGS method
- ⚠Variants of uncertain significance may be reported; additional familial segregation analysis may be needed
- ⚠Test is not intended for newborn screening or non-invasive prenatal testing
- ⚠A negative result does not rule out the possibility of non-genetic dementia or mutations in untested regions
Risks & Considerations
- ●Minimal risk of pain, bruising, or dizziness during blood collection
- ●Psychological impact of results related to hereditary disease
- ●Potential for incidental findings in genes not related to the primary test indication
- ●Insurance/family concerns regarding genetic information (mitigated by genetic counselling and privacy laws)
Interfering Factors
- ●Maternal cell contamination in fetal or cord blood samples
- ●Severe haemolysis or sample degradation due to improper storage/transport
- ●DNA quantity below the minimum threshold required for NGS library preparation
- ●Presence of polymerase chain reaction inhibitors in the extracted DNA
Compare With Similar Tests
| Test | PSEN1 Gene Dementia, frontotemporal NGS Genetic Test | PSEN1 Targeted Mutation Analysis | PSEN1 Full Gene Sequencing via Sanger | Dementia Multigene NGS Panel |
|---|---|---|---|---|
| Comparison | PSEN1 Gene Dementia, frontotemporal NGS Genetic Test |
Frequently Asked Questions
What is the PSEN1 Gene Dementia, frontotemporal NGS Genetic Test?
What is the role of the PSEN1 gene in dementia?
Who is a candidate for this genetic test?
What type of sample is needed for the test?
Is fasting required before sample collection?
How much does the test cost?
What is the turnaround time for reporting?
Will I receive raw data files with my report?
How accurate is NGS technology for PSEN1 mutation detection?
Can the test differentiate between Alzheimer’s and frontotemporal dementia?
Are there any risks associated with genetic testing?
How do I book an appointment for home sample collection?
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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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