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SOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic Test

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SOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic Test

Short Name: SOD1 ALS1 NGS Test

Also known as: SOD1 Gene Mutation Test, ALS Type 1 Genetic Test, SOD1 Sequencing, SOD1 Gene Analysis

SOD1 Gene Amyotrophic Lateral Sclerosis 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 results for the SOD1 Gene ALS Type 1 NGS Genetic Test are typically delivered within 3 to 4 weeks from the date of sample receipt. Patients receive an online portal alert and an email / WhatsApp notification when the report is ready.. Free home collection in 300+ cities across India.

Diagnostic, PredictiveAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of this NGS genetic test is to detect disease-causing mutations in the SOD1 gene associated with amyotrophic lateral sclerosis type 1. It assists in confirming a clinical diagnosis in symptomatic individuals, supports predictive testing for presymptomatic family members, and helps differentiate ALS type 1 from other motor neuron diseases. The test result also enables informed reproductive and family planning decisions through genetic counselling.

Test Code
3884
ICD Code
G12.21
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The results for the SOD1 Gene ALS Type 1 NGS Genetic Test are typically delivered within 3 to 4 weeks from the date of sample receipt. Patients receive an online portal alert and an email / WhatsApp notification when the report is ready.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special pre-test preparation such as fasting is required. However, a detailed clinical history and genetic counselling session are recommended before undergoing the test. The physician may draw a three-generation pedigree to assess hereditary risk.

Method: Peripheral Blood Draw or Finger Prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect approximately 2-3 ml of peripheral blood in an EDTA vacutainer. For FTA card sampling, one drop of blood is collected onto the designated card. The procedure is quick and routine.

Step 3

Report Delivery

No post-test restrictions apply. The specimen is transported to the laboratory at ambient temperature (15-25°C). Patients can go about their daily activities immediately. The report will be available within 3 to 4 weeks.

Timeline: The results for the SOD1 Gene ALS Type 1 NGS Genetic Test are typically delivered within 3 to 4 weeks from the date of sample receipt. Patients receive an online portal alert and an email / WhatsApp notification when the report is ready.

Patient Instructions

1
Before the Test:Before proceeding with this SOD1 gene NGS test, it is important to have a genetic counselling session. The counsellor will review your personal and family history, explain the benefits and limitations of the test, and discuss the implications of positive, negative, or uncertain results. An informed consent form must be signed. No fasting or dietary changes are needed.
2
During the Test:The test involves only a routine blood sample collection or an FTA card finger prick. This takes about 5-10 minutes. No anesthesia is required. The sample is securely packed and sent to DNA Labs India for NGS analysis.
3
After the Test:After sample collection, you may resume daily activities immediately. The laboratory will process the sample using NGS technology, followed by bioinformatic analysis and variant interpretation. Reports are generated in 3 to 4 weeks. Our genetic counsellor can schedule a post-test consultation to explain the results and next steps.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to detect disease-causing mutations in the SOD1 gene associated with amyotrophic lateral sclerosis type 1. It assists in confirming a clinical diagnosis in symptomatic individuals, supports predictive testing for presymptomatic family members, and helps differentiate ALS type 1 from other motor neuron diseases. The test result also enables informed reproductive and family planning decisions through genetic counselling.

How to Prepare

  • For blood sample: Use EDTA vacutainer and fill to the marked line
  • For FTA card: Apply single drop of blood on each circle and allow to dry for at least 1 hour
  • Label the sample with patient name, date, and unique ID
  • Samples should be shipped in biohazard bags with proper packaging
  • Avoid hemolysis during collection or transport

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for SOD1 mutations is essential for early diagnosis, prognosis and family planning. A multidisciplinary approach helps at-risk families make informed decisions."

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
ContainerEDTA Vacutainer or FTA Card
Collection MethodPeripheral Blood Draw or Finger Prick

Sample Stability

Whole blood in EDTA: Stable for 24-48 hours at room temperature
Whole blood in EDTA: Stable for 1 week at 2-8°C
FTA card dried blood spot: Stable for up to 6 months at room temperature
Extracted DNA: Stable for years at -20°C or below
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood when using EDTA tube beyond acceptable limit
  • Incorrectly labeled or unmatched specimen
  • Sample received in sodium heparin tube if not specified
  • Insufficient quantity of blood or DNA
  • FTA card saturated with water or contaminated

Understanding Your Results

The clinical interpretation of SOD1 gene sequencing results is based on the American College of Medical Genetics and Genomics (ACMG) guidelines. Results are categorized as positive, negative, or variant of uncertain significance. The report is reviewed by a clinical geneticist and integrated with the patient's clinical and family history.
📊

Pathogenic or Likely Pathogenic variant detected

A disease-causing SOD1 mutation is identified. This confirms the genetic diagnosis of ALS type 1. Predictive testing of at-risk family members is recommended.

📊

No pathogenic variant detected

Neither a pathogenic nor likely pathogenic variant was found in the SOD1 gene. ALS due to SOD1 mutation is excluded. Evaluation of other genetic and non-genetic causes may be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is currently unknown. Additional family analysis and functional studies may help reclassify the variant.

⚠️ When to Consult a Doctor:

If you or a family member experience unexplained progressive muscle weakness, twitching, cramps, or difficulty with speech, swallowing, or breathing, consult a neurologist. Genetic testing is recommended when familial ALS is suspected or when a SOD1 mutation has been identified in a family. Predictive genetic counselling is essential before testing for at-risk individuals.

Limitations

  • ⚠NGS does not detect all types of mutations; large structural rearrangements and deep intronic variants may escape detection
  • ⚠This test specifically addresses SOD1-related ALS and does not analyse other ALS-associated genes
  • ⚠The absence of a detectable SOD1 mutation does not exclude ALS of other genetic or sporadic causes
  • ⚠Interpretation of variants of uncertain significance may require further family segregation studies and functional analysis
  • ⚠Predictive testing in asymptomatic individuals should only be performed after genetic counselling

Risks & Considerations

  • ●No physical risks from the standard blood collection procedure
  • ●Minimal discomfort at the puncture site
  • ●Possible psychological impact of finding a pathogenic variant
  • ●Risk of false reassurance if a mutation is not detected due to testing limitations

Interfering Factors

  • ●Sequence variants in non-coding regulatory regions may not be detected by standard NGS
  • ●Large gene deletions or duplications may require additional copy number analysis
  • ●Extremely high GC-content regions of the SOD1 gene may have reduced sequencing coverage
  • ●Very low-quality DNA or partially degraded DNA can affect test accuracy
  • ●Recent bone marrow transplantation may cause mixed DNA results and misinterpretation

Compare With Similar Tests

TestSOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic TestSOD1 Single Gene SequencingMulti-Gene ALS PanelWhole Exome Sequencing
ComparisonSOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic Test

Frequently Asked Questions

What does the SOD1 Gene ALS Type 1 NGS Test detect?
This test detects mutations in the SOD1 gene associated with amyotrophic lateral sclerosis type 1. It uses next-generation sequencing to read the entire coding region of the SOD1 gene and identify pathogenic variants that cause or increase the risk of ALS.
Who should consider taking this SOD1 gene test?
Individuals with symptoms suggestive of ALS, those with a family history of ALS, or individuals known to have a relative carrying a SOD1 mutation are candidates for this test. It is also useful for presymptomatic family members after genetic counselling.
What is the cost of the SOD1 Gene ALS Type 1 NGS Genetic Test in India?
DNA Labs India offers this test at INR 20000. This cost includes home sample collection, NGS analysis, clinical interpretation, and the final report. No additional charges for the standard service.
Do I need to fast for this genetic test?
No, fasting is not required for this test. The blood sample can be collected at any time of the day. However, it is essential to provide a clear clinical history and complete the genetic counselling process for accurate interpretation.
What sample is required for the SOD1 NGS test?
The preferred sample is 2-3 ml of whole blood in an EDTA vacutainer. Alternatively, extracted DNA or one drop of blood on an FTA card can be used. Home collection is available for online bookings.
What is the turnaround time for the SOD1 gene test?
The test report is available within 3 to 4 weeks after the sample reaches the laboratory. This includes sequencing, bioinformatics analysis, and manual variant interpretation by the clinical genetics team.
Will I receive raw data files with the report?
Yes, DNA Labs India is transparent in sharing raw data files such as FASTQ and VCF along with the clinical report. This allows independent verification and future reanalysis if needed. You can request these files while booking the test.
How accurate is the NGS test for SOD1 mutations?
NGS-based sequencing is highly accurate for detecting single nucleotide variants and small insertions/deletions in the SOD1 gene. The analytical sensitivity exceeds 99% for variant detection with at least 100x coverage. However, large structural rearrangements may not be captured by this method.
What does a negative SOD1 test result mean?
A negative result means no pathogenic mutation was found in the SOD1 gene. This significantly reduces the likelihood of SOD1-related ALS, but does not rule out other genetic or sporadic forms of ALS. Your doctor may recommend a broader ALS gene panel.
Is genetic counselling necessary before taking this test?
Yes, genetic counselling is strongly recommended. A Genetic Counselling session helps draw a family pedigree, explains the implications of possible results, discusses risks of passing the mutation to children, and ensures informed consent is obtained.
Can this test be used for prenatal diagnosis?
This test is intended for postnatal diagnostic and predictive testing. Prenatal diagnosis of SOD1-related ALS can be performed using amniocentesis or CVS after confirmation of a familial mutation, with appropriate genetic counselling and ethical approval.
Are there any risks or side effects of the test?
The physical risk is minimal, similar to a routine blood test. However, a positive genetic result can cause emotional and psychological stress. Predictive testing may have implications for insurance and employment. It is essential to discuss these risks with the genetics team before testing.
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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