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DNA Labs India

APP Gene Alzheimer Disease Type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

APP Gene Alzheimer Disease Type 1 NGS Genetic Test

Short Name: APP Alzheimer NGS

Also known as: APP gene mutation analysis, Alzheimer disease type 1 genetic test, Amyloid precursor protein gene NGS

APP Gene Alzheimer Disease Type 1 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 genetic report is usually available in 3 to 4 weeks after the sample reaches DNA Labs India. The report will be sent to your registered email, WhatsApp, and online patient portal.. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify disease-causing variants in the APP gene in individuals suspected of or at risk for Alzheimer disease type 1. It helps establish a molecular diagnosis, assists with family risk assessment, and supports informed medical and reproductive decisions.

Test Code
3866
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The genetic report is usually available in 3 to 4 weeks after the sample reaches DNA Labs India. The report will be sent to your registered email, WhatsApp, and online patient portal.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Patients should attend a genetic counselling session before the test and share complete clinical and family history. A signed consent may be requested by the laboratory.

Method: Venipuncture or FTA card blood spot or DNA sample submission

Step 2

Laboratory Analysis

For blood, a small amount is drawn from a vein in the arm. For FTA card collection, a single drop of blood from a fingerprick is applied to the pre-printed circle. For extracted DNA, the sample is sent in a properly labelled tube.

Step 3

Report Delivery

There are no restrictions after sample collection. The sample is transported to the laboratory at appropriate temperature depending on sample type. Reports are delivered in 3 to 4 weeks and post-test genetic counselling is recommended.

Timeline: The genetic report is usually available in 3 to 4 weeks after the sample reaches DNA Labs India. The report will be sent to your registered email, WhatsApp, and online patient portal.

Patient Instructions

1
Before the Test:Attend a genetic counselling session, share your family history and details of any neurological symptoms. No dietary changes or fasting are required.
2
During the Test:Sample collection usually takes 5 to 10 minutes. You may feel a slight stinging sensation during blood draw or fingerprick.
3
After the Test:You can resume normal activities immediately. Await the report in 3 to 4 weeks and attend post-test genetic counselling to understand the implications.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify disease-causing variants in the APP gene in individuals suspected of or at risk for Alzheimer disease type 1. It helps establish a molecular diagnosis, assists with family risk assessment, and supports informed medical and reproductive decisions.

How to Prepare

  • No fasting needed before sample collection.
  • Bring a valid photo ID, clinical history, previous reports, and family pedigree if available.
  • For FTA card, allow the blood spot to dry completely before packing.
  • For extracted DNA, do not freeze-thaw repeatedly; ship on ice or as instructed.
  • Ensure the sample is clearly labelled with patient name, date of birth, and date of collection.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"For families with a known APP gene mutation, reproductive counselling becomes an important part of care. An OB-GYN geneticist can discuss prenatal diagnosis, preimplantation genetic testing, and other family planning options with couples who are at risk of transmitting Alzheimer disease type 1."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL whole blood or one FTA blood spot or 5-10 µg extracted DNA
ContainerLavender top EDTA tube, FTA card, or sterile DNA vial
Collection MethodVenipuncture or FTA card blood spot or DNA sample submission

Sample Stability

Whole blood (EDTA): 24-48 hours at 2-8°C; do not freeze whole blood.
FTA card: stable for weeks at ambient temperature; no cold chain required.
Extracted DNA: stable for months at -20°C; avoid repeated freeze-thaw cycles.
Sample Rejection Criteria:
  • Clotted or severely hemolyzed blood samples
  • Improperly labelled samples or mismatch with requisition form
  • Extracted DNA with insufficient quantity or degraded quality
  • Sample received without clinical history or genetic counselling documentation

Understanding Your Results

Interpretation of the APP gene NGS test is performed by a clinical geneticist and is based on ACMG/AMP variant classification guidelines. The final report is considered alongside the patient's clinical picture and family history.
📊

Pathogenic or likely pathogenic variant detected in APP

📊

Variant of uncertain significance (VUS)

📊

No pathogenic variant detected

📊

Benign or likely benign variant detected

⚠️ When to Consult a Doctor:

You should consult a doctor if you or a family member has persistent short-term memory loss, difficulty with planning or problem-solving, confusion about familiar places, personality changes, or a known family history of early-onset Alzheimer's disease. A neurologist or clinical geneticist can decide whether APP gene testing is appropriate.

Limitations

  • ⚠This single-gene test only analyses APP; mutations in PSEN1 and PSEN2 are not covered
  • ⚠Large genomic deletions, duplications, or structural variants may not be completely detected by routine NGS
  • ⚠A negative result does not exclude Alzheimer's disease or other causes of dementia
  • ⚠A variant of uncertain significance may require additional family segregation studies for interpretation

Risks & Considerations

  • ●Minimal physical risk such as bruising or discomfort at the venipuncture site
  • ●Psychological stress related to a possible positive genetic result
  • ●Reproductive and emotional implications for family members
  • ●Risk of genetic discrimination by insurers if not legally protected

Interfering Factors

  • ●Recent allogeneic bone marrow transplant may affect DNA test results due to mixed chimerism
  • ●Contamination of the sample with another person's biological material
  • ●Inadequate DNA quantity or quality
  • ●Sample mix-up or incorrect patient identification
  • ●Very large gene rearrangements or deep intronic variants may not be detected by standard NGS

Frequently Asked Questions

What is APP gene Alzheimer Disease Type 1 NGS genetic test?
This is a next-generation sequencing test that reads the coding regions of the APP gene to detect mutations known to cause Alzheimer disease type 1. It is recommended for individuals with unexplained early-onset dementia or a family history suggestive of autosomal dominant Alzheimer's disease.
Who should get this test done?
People who have a first-degree relative with early-onset Alzheimer's disease confirmed to carry an APP mutation, or patients with dementia onset before 65 years along with a positive family history. It should be ordered after clinical and genetic counselling.
How is the sample collected?
The test requires either 2-3 ml of blood in an EDTA tube, a single drop of blood on an FTA card, or already extracted DNA. No fasting is needed.
What does NGS stand for?
NGS stands for Next Generation Sequencing, a high-throughput technology that can sequence many DNA fragments in parallel. It is highly sensitive and suitable for analysing the entire APP gene in one assay.
How much does the test cost in India?
DNA Labs India offers this test at Rs 20,000, which includes free home sample collection in selected cities. Prices may vary in other laboratories.
How long will the report take?
Reports are usually available within 3 to 4 weeks after the laboratory receives the sample.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic APP mutation was identified. This strongly increases the lifetime risk for early-onset familial Alzheimer's disease and can help clarify the diagnosis in a symptomatic person.
What does a negative result mean?
A negative result means no clinically significant APP mutation was found. It does not completely rule out Alzheimer's disease, because other genes and non-genetic factors can also be responsible.
Can this test predict the risk in family members?
Yes, if a specific APP mutation has already been identified in a family, this NGS test can be used for predictive testing in asymptomatic at-risk relatives after proper counselling. Predictive testing should only be done in a formal genetic counselling setting.
Is genetic counselling necessary?
Yes. Genetic counselling is mandatory before and after this test. It helps to explain the implications, limitations, and available management options, and ensures the patient makes an informed decision.
Is this test used for late-onset Alzheimer's disease?
No. Late-onset Alzheimer disease is usually multifactorial and APOE variants are commonly involved. APP gene testing is mainly indicated for early-onset familial forms.
Does medical insurance cover this test?
In most Indian health policies, genetic testing is not covered. Coverage depends on the insurer, policy terms, and medical justification. You may check with your insurance provider.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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