PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test
Short Name: PFN1 ALS18 NGS
Also known as: PFN1 Gene Mutation Analysis, Profilin-1 Gene Sequencing, ALS18 Genetic Test, PFN1 ALS Type 18 NGS Panel
PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) - targeted gene analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are usually available within 3 to 4 weeks from sample receipt.. 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 purpose of this NGS genetic test is to detect pathogenic and likely pathogenic variants in the PFN1 gene associated with amyotrophic lateral sclerosis type 18. It facilitates molecular confirmation of the diagnosis, helps assess the risk of disease in family members, and supports reproductive and clinical decisions in affected families.
- Test Code
- 3888
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are usually available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS) - targeted gene analysis
Sample Collection
No fasting is required. Please complete the test request form, provide a valid doctor's referral if available, and attend the genetic counseling session. The counselor will draw a family pedigree to assess inheritance risk.
Method: Venous blood collection or FTA card spot
Laboratory Analysis
For blood-based samples, a trained phlebotomist will collect blood into an EDTA tube under sterile conditions. For FTA cards, a few drops of blood will be spotted onto the card. The process is safe and takes only a few minutes.
Report Delivery
The sample is labeled and transported to the laboratory. Genomic DNA is extracted and purified for next-generation sequencing. No post-procedure rest is required.
Timeline: Results are usually available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic and likely pathogenic variants in the PFN1 gene associated with amyotrophic lateral sclerosis type 18. It facilitates molecular confirmation of the diagnosis, helps assess the risk of disease in family members, and supports reproductive and clinical decisions in affected families.
How to Prepare
- No fasting required before sample collection.
- Use an EDTA tube for whole blood collection.
- If using an FTA card, apply one drop of blood to the card and allow it to air-dry completely.
- Label the sample with the patient's name, unique ID, and date of collection.
- Maintain the sample at room temperature during transport.
- Ensure written informed consent is obtained before genetic testing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Clinical correlation is essential in ALS. Genetic testing for PFN1 should be considered in familial or atypical presentations, alongside a neurologist-led evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient sample volume
- Unlabeled or mislabeled specimen
- FTA card not properly dried or sealed
- Sample with suspected contamination
Understanding Your Results
Pathogenic variant detected
Likely pathogenic variant detected
Variant of uncertain significance (VUS)
Benign or likely benign variant
No pathogenic variant detected
If you or a family member have muscle weakness, twitching, difficulty speaking or swallowing, or a known ALS family history, consult a neurologist to review clinical findings and decide whether PFN1 genetic testing is appropriate.
Limitations
- ⚠Targeted PFN1 sequencing will not detect large structural rearrangements, deep intronic variants, or repeat expansions in other ALS genes.
- ⚠A negative PFN1 result does not exclude ALS because mutations in other genes or non-genetic causes may be responsible.
- ⚠A variant of uncertain significance may be reported and may require additional family segregation studies.
- ⚠This test is not a whole-exome or whole-genome screen.
Risks & Considerations
- ●No significant health risks are associated with this test.
- ●Minor pain, bruising, or discomfort may occur at the blood collection site.
- ●A genetic result may have emotional, social, or familial implications.
Interfering Factors
- ●Insufficient or degraded DNA sample
- ●Presence of PCR inhibitors in the extracted sample
- ●Poor NGS coverage at PFN1 due to GC-rich regions or technical failure
- ●Sample contamination during blood collection or processing
- ●Incorrect or incomplete patient and family history information
Compare With Similar Tests
| Test | PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test | PFN1 Gene Test | SOD1 Gene Test | C9orf72 Gene Test |
|---|---|---|---|---|
| Comparison | PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test |
Frequently Asked Questions
What is the PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test?
How much does this test cost in India?
What sample is needed for the PFN1 ALS18 genetic test?
Do I need to fast before giving a sample?
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What diseases are associated with the PFN1 gene?
Why is NGS used for this test?
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Can this test be used for predictive testing in an asymptomatic person?
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