SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic Test
Short Name: SERPINI1 NGS
Also known as: FENIB Genetic Test, Neuroserpin Gene Mutation Analysis, SERPINI1 Gene Sequencing
SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger validation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks from the date the sample is received at the laboratory. Urgent and expedited services are not available for this test.. 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 identify pathogenic mutations in the SERPINI1 gene associated with Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB). It assists in confirming a clinical diagnosis, providing prognosis-related information, enabling carrier detection in at-risk relatives, and informing reproductive choices.
- Test Code
- 4059
- CPT Code
- 81401
- ICD Code
- G31.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks from the date the sample is received at the laboratory. Urgent and expedited services are not available for this test.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger validation
Sample Collection
No special dietary or fasting preparation is required. However, the referring physician may request a genetic counseling session and a detailed family history pedigree prior to sample submission.
Method: Peripheral blood draw or dried blood spot on FTA card
Laboratory Analysis
A peripheral blood sample is drawn by a trained phlebotomist. Alternatively, a dried blood spot can be collected on an FTA card using a simple finger-prick for outstation or home collection.
Report Delivery
The sample is labeled, logged, and transported to the DNA Labs India laboratory under recommended storage conditions. No restriction on normal daily activities after collection.
Timeline: Reports are typically available within 3 to 4 weeks from the date the sample is received at the laboratory. Urgent and expedited services are not available for this test.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SERPINI1 gene associated with Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB). It assists in confirming a clinical diagnosis, providing prognosis-related information, enabling carrier detection in at-risk relatives, and informing reproductive choices.
How to Prepare
- Blood sample in EDTA or ACD vacutainer should be filled to indicated mark and mixed gently by inversion.
- FTA card samples should be air-dried and placed in a biohazard bag with desiccant.
- Samples must be labeled with patient name, date of birth, and collection time.
- Ship samples to the laboratory at room temperature; avoid exposure to extreme heat or freezing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for familial encephalopathy is essential for accurate diagnosis and family risk assessment. The VUS results should always be interpreted with clinical correlation and parental studies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or visibly contaminated blood sample
- Unlabelled or mislabeled samples
- Samples received after prolonged transit without proper refrigeration or storage
- FTA card with insufficient blood spot volume or contaminated with foreign material
Understanding Your Results
Pathogenic / Likely Pathogenic
A mutation is identified that is consistent with FENIB. This result confirms the clinical diagnosis and can guide management and family screening.
Variant of Uncertain Significance (VUS)
The variant is not clearly associated with disease. Additional family segregation studies, functional evidence, or genetic database updates may be required to reclassify.
No Pathogenic Variant Detected
No mutation was found in the SERPINI1 gene. This does not exclude a genetic cause, and a broader neurological gene panel or whole exome sequencing may be considered.
If you or a family member experience seizures, unusual cognitive decline, movement abnormalities, or behavioral changes, especially with a family history of early-onset neurological disease, consult a neurologist. A genetic counselor should be involved before and after undergoing this hereditary neurogenetic test.
Limitations
- ⚠This test detects point mutations and small insertions/deletions within coding and adjacent intronic regions. It may not detect large gene rearrangements or promoter mutations.
- ⚠A variant of uncertain significance (VUS) may not directly aid in clinical diagnosis and may require segregation analysis in family members.
- ⚠Negative results do not entirely rule out genetic forms of encephalopathy, as mutations in other genes can produce similar phenotypes.
- ⚠Clinical correlation and genetic counseling are essential for accurate interpretation of test results.
Risks & Considerations
- ●Minimal pain or bruising at the site of blood draw
- ●Fainting or dizziness during venipuncture
- ●Rare infection if the skin barrier is broken during collection
Interfering Factors
- ●Degraded or low-quality DNA that fails to meet library preparation thresholds
- ●Contamination of sample with foreign DNA
- ●Mutations in the promoter or deep intronic regions not covered by the assay
- ●Large copy number variants or structural variants that may escape standard NGS analysis
Compare With Similar Tests
| Test | SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic Test | ||
|---|---|---|---|
| Comparison | SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic Test |
Frequently Asked Questions
What is Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB)?
What are the symptoms of SERPINI1 gene encephalopathy?
How is FENIB diagnosed?
What is the role of NGS genetic testing in FENIB?
What is the cost of NGS genetic testing for FENIB in India?
What sample is needed for the SERPINI1 NGS test?
How long does it take to get results?
Is home sample collection available?
Why should I ask for raw data (FASTQ and VCF files)?
What is the inheritance pattern of FENIB?
Is genetic counseling recommended before the test?
Are there any preparation requirements for the test?
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