SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 NGS Genetic Test
Short Name: SIGMAR1 ALS16 NGS
Also known as: SIGMAR1 Gene ALS16 NGS Test, ALS Type 16 Genetic Test, SIGMAR1 Mutation Analysis
SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or FTA Card blood spot samples. Results in The analysis is typically completed and the report is generated within 3 to 4 weeks after the sample reaches DNA Labs India. Delays may occur in case of sample degradation or repeat sequencing.. 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 variants in the SIGMAR1 gene associated with Amyotrophic Lateral Sclerosis Type 16. It aids in confirming the clinical diagnosis of ALS16, provides prognostic information, facilitates reproductive planning, and enables presymptomatic testing in at-risk family members. The test also helps to differentiate ALS16 from other motor neuron diseases.
- Test Code
- 3878
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or FTA Card blood spot
- Result Time
- The analysis is typically completed and the report is generated within 3 to 4 weeks after the sample reaches DNA Labs India. Delays may occur in case of sample degradation or repeat sequencing.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counseling session is recommended prior to testing to understand the scope and implications. If the patient is on anticoagulants, the treating physician may be informed. Since no fasting is needed, patients may eat and drink normally.
Method: Venipuncture / DNA extraction / FTA card spot
Laboratory Analysis
For a blood sample, a tourniquet is applied and a sterile venipuncture is performed to draw approximately 5 mL of peripheral blood into an EDTA vacutainer. For FTA card collection, a few drops of blood are spotted onto the FTA card and allowed to air dry. Extracted DNA may also be submitted in a sterile tube if preferred.
Report Delivery
No specific post-procedure restrictions are required. Patients can resume normal activities immediately. It is advised to apply gentle pressure at the puncture site for a few minutes to prevent bruising. The sample should be transported to the laboratory at ambient temperature or as per the provided instructions.
Timeline: The analysis is typically completed and the report is generated within 3 to 4 weeks after the sample reaches DNA Labs India. Delays may occur in case of sample degradation or repeat sequencing.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SIGMAR1 gene associated with Amyotrophic Lateral Sclerosis Type 16. It aids in confirming the clinical diagnosis of ALS16, provides prognostic information, facilitates reproductive planning, and enables presymptomatic testing in at-risk family members. The test also helps to differentiate ALS16 from other motor neuron diseases.
How to Prepare
- Maintain strict sterility during venipuncture.
- Use EDTA lavender-top tube for whole blood collection.
- For FTA card, allow blood spots to dry completely at ambient temperature before sealing.
- If sending extracted DNA, ensure concentration ≥20 ng/µL and OD260/280 ratio between 1.8 and 2.0.
- Samples should be transported at room temperature for up to 72 hours; for longer duration, refrigeration may be needed.
- Label every sample with patient name, UID, and collection date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for familial ALS can aid in timely management and family screening. This NGS-based SIGMAR1 gene test provides information to guide clinical decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficiently filled samples
- Sample without proper patient identification
- FTA card not dried or contaminated with moisture
- DNA samples with degraded or fragmented DNA
- Samples received more than 72 hours after collection without proper storage
Understanding Your Results
Positive / Pathogenic variant detected
Confirms the diagnosis of Amyotrophic Lateral Sclerosis Type 16 and provides a genetic basis for the condition.
Negative / No pathogenic variant detected
Does not identify a SIGMAR1-related cause; however, ALS due to other genes cannot be excluded.
Variant of Unknown Significance (VUS)
A DNA change was found, but its role in causing ALS is uncertain. Further family studies and functional testing may be recommended.
Consult a neurologist immediately if you experience progressive muscle weakness, difficulty with speech or swallowing, or persistent muscle twitching. For genetic testing and interpretation, a consultation with a clinical geneticist is advised to discuss the appropriateness of testing and the implications of results.
Limitations
- ⚠NGS may not detect large deletions, duplications, or deep intronic pathogenic variants.
- ⚠This test only evaluates the SIGMAR1 gene and does not rule out ALS caused by other genes.
- ⚠Variants of unknown significance may require additional family studies or functional assays.
- ⚠Negative or inconclusive results should not be considered a definitive absence of disease.
- ⚠Testing cannot predict age of onset or disease severity with certainty.
Risks & Considerations
- ●Minimal risk of bruising at the venipuncture site
- ●Rare risk of infection at needle site
- ●Emotional distress or anxiety related to genetic test results
- ●Unexpected findings regarding familial relation (incidental findings)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination with foreign DNA (e.g., maternal cell contamination)
- ●Inappropriate sample collection or storage
- ●Presence of large structural variants not detectable by NGS
- ●Repeat expansion mutations in other ALS-related genes
Compare With Similar Tests
| Test | SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 NGS Genetic Test | |||||
|---|---|---|---|---|---|---|
| Comparison | SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 NGS Genetic Test |
Frequently Asked Questions
What is the SIGMAR1 gene associated with?
How does this NGS genetic test help in ALS diagnosis?
What type of sample is needed for this test?
Do I need to fast for the test?
What is the turnaround time for results?
Is genetic counselling offered with the test?
Can this test detect all types of ALS?
What is the cost of the test at DNA Labs India?
Is home sample collection available?
Are raw data files provided with the report?
Who should consider getting this test?
What does a negative result mean?
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