SORL1 Gene Alzheimers Disease, Early Onset, Autosomal Dominant NGS Genetic Test
Short Name: SORL1 NGS Genetic Test
Also known as: SORL1 Gene Mutation Test, Early-Onset Alzheimer's Genetic Test, SORL1 Alzheimer's Disease NGS Test, Familial Alzheimer's SORL1 DNA Test
SORL1 Gene Alzheimers Disease, Early Onset, Autosomal Dominant 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 3 to 4 weeks from sample receipt. Reports will be uploaded to the online portal and sent via email/WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to analyze the SORL1 gene for disease-associated variants that can contribute to early-onset autosomal dominant Alzheimer's disease. The test is intended for individuals with clinical suspicion or a strong family history and should be interpreted alongside genetic counseling and pedigree analysis.
- Test Code
- 3872
- ICD Code
- G30.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt. Reports will be uploaded to the online portal and sent via email/WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Pre-test genetic counseling is recommended. The clinician will collect the patient's clinical history and draw a family pedigree. No special dietary preparation is required.
Method: Venipuncture / FTA card blood spot / DNA submission
Laboratory Analysis
During collection, a small blood sample is drawn from a vein in the arm, or a few drops of blood are placed on an FTA card. If extracted DNA is being submitted, only a labeled DNA vial is required.
Report Delivery
After collection, the patient can continue routine activities. The sample is sent to the genetics laboratory for NGS testing, and reports are issued within 3 to 4 weeks.
Timeline: 3 to 4 weeks from sample receipt. Reports will be uploaded to the online portal and sent via email/WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to analyze the SORL1 gene for disease-associated variants that can contribute to early-onset autosomal dominant Alzheimer's disease. The test is intended for individuals with clinical suspicion or a strong family history and should be interpreted alongside genetic counseling and pedigree analysis.
How to Prepare
- Use an EDTA tube for whole blood collection.
- If using an FTA card, let the blood spot air-dry before packing.
- Label the sample container with patient name, date of birth, and collection date.
- Maintain the sample at room temperature or as instructed by the collection kit.
- Submit the sample with the test requisition form and signed consent.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for early-onset Alzheimer's disease should always be accompanied by pre- and post-test genetic counseling. A positive SORL1 variant needs careful interpretation in the context of family pedigree and clinical course."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient blood or DNA quantity.
- Clotted, hemolyzed, or contaminated sample.
- Unlabeled or mislabeled sample.
- Sample received in a tube without anticoagulant.
- Sample that has degraded due to improper transport or temperature.
Understanding Your Results
Pathogenic or likely pathogenic variant detected
The patient has a SORL1 variant associated with increased risk for early-onset autosomal dominant Alzheimer's disease. Clinical evaluation and genetic counseling are recommended.
Variant of uncertain significance (VUS)
This variant cannot yet be classified as benign or pathogenic. Additional testing of affected and unaffected family members may help clarify its significance.
No pathogenic variant detected
No reportable SORL1 variant was found. Other genetic and non-genetic causes of Alzheimer's disease should be considered.
Benign or likely benign variant detected
This variant is unlikely to be the cause of the patient's Alzheimer's disease.
Consult a neurologist or a clinical geneticist before and after testing if you have a personal or family history of early-onset Alzheimer's disease, or if the test result shows a variant of uncertain significance or a pathogenic SORL1 mutation.
Limitations
- ⚠NGS of the SORL1 gene detects single nucleotide variants and small insertions/deletions in coding regions and splice sites.
- ⚠This test may not detect large chromosomal rearrangements, deep intronic variants, mitochondrial variants, or variants in regulatory regions.
- ⚠A negative result does not rule out Alzheimer's disease due to mutations in other genes such as APP, PSEN1, or PSEN2.
- ⚠Results should be interpreted by a clinical geneticist or neurologist.
Risks & Considerations
- ●No significant medical risk associated with blood sample collection.
- ●Possible minor bruising, pain, or bleeding at the venipuncture site.
- ●Psychological impact of predictive test result; genetic counseling is recommended.
- ●Rare chance of result-related anxiety or family relationship concerns.
Interfering Factors
- ●Recent allogeneic bone marrow transplant or blood transfusion may alter DNA test results.
- ●Insufficient or degraded DNA can reduce test sensitivity.
- ●Contamination during sample collection or transport may interfere with results.
- ●Unreported or incomplete family history may limit interpretation.
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Frequently Asked Questions
What is SORL1 Gene Alzheimer's Disease Early Onset Autosomal Dominant NGS Genetic Test?
Why is SORL1 gene testing done?
Who should consider this test?
What is the cost of the SORL1 NGS genetic test at DNA Labs India?
What sample is required for the SORL1 gene test?
Is fasting required before the SORL1 genetic test?
How long does the SORL1 NGS test report take?
What does a pathogenic variant in SORL1 mean?
Does a negative SORL1 test rule out Alzheimer's disease?
Why is genetic counseling necessary before this test?
Will I receive raw data files with the clinical report?
Can I book a home sample collection for this test?
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