ALS2 Gene Amyotrophic Lateral Sclerosis Type 2, Juvenile NGS Genetic Test
Short Name: ALS2 Gene Juvenile ALS Type 2 NGS Test
Also known as: ALS2 Gene Mutation Analysis, Juvenile ALS Type 2 Genetic Test, ALS2 NGS Sequencing, ALS Type 2 Diagnosis via NGS
ALS2 Gene Amyotrophic Lateral Sclerosis Type 2, Juvenile NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Validation (as applicable) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 21 days (3 to 4 weeks) from the date of 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 identify pathogenic variants in the ALS2 gene that are associated with Amyotrophic Lateral Sclerosis Type 2 (Juvenile). It is used to confirm a clinical diagnosis, evaluate unexplained early-onset motor neuron disease, provide risk assessment for at-risk family members, and inform genetic counselling and management decisions.
- Test Code
- 3881
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 21 days (3 to 4 weeks) from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Validation (as applicable)
Sample Collection
No special preparation is required. Clinical history and a genetic counselling session with pedigree drawing are mandatory. Patients should bring relevant medical records, previous test results, and a valid physician referral if available.
Method: Venipuncture / Fingerstick for dried blood spot
Laboratory Analysis
A trained phlebotomist will collect venous blood in an EDTA vacutainer, or a finger-prick blood spot on an FTA card as per the ordering physician's instruction. The procedure is quick and minimally painful.
Report Delivery
Patients can resume normal activities immediately. The specimen will be transported to the laboratory at appropriate temperatures. Reports will be shared via email/portal within 3-4 weeks.
Timeline: Results are typically available within 21 days (3 to 4 weeks) from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ALS2 gene that are associated with Amyotrophic Lateral Sclerosis Type 2 (Juvenile). It is used to confirm a clinical diagnosis, evaluate unexplained early-onset motor neuron disease, provide risk assessment for at-risk family members, and inform genetic counselling and management decisions.
How to Prepare
- Use EDTA vacutainer (purple cap) for whole blood collection
- For FTA card: apply one drop of blood and let it air dry completely
- For extracted DNA: place 2-5 μg in a sterile, clearly labelled microcentrifuge tube
- Label every sample with patient name, date of birth, collection date, and test name
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation of ALS Type 2 is essential for targeted management, prognosis, and family counselling. NGS-based testing offers rapid and reliable results for families affected by this rare juvenile disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolyzed or clotted samples
- Incorrect or missing sample label
- Sample in a non-EDTA tube without prior approval
- Incomplete requisition form lacking clinical history or consent
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of ALS Type 2 (Juvenile Amytrophic Lateral Sclerosis). Genetic counselling for the patient and family is recommended.
Variant of uncertain significance (VUS) detected
A gene variant with unknown clinical significance. Family segregation studies and functional analysis may help clarify its role.
No pathogenic variant detected
No mutation in the ALS2 gene was found. This does not exclude ALS Type 2 definitively; other genetic or acquired causes should be considered.
Consult a neurologist or medical geneticist if a child or adolescent presents with unexplained muscle weakness, stiffness, difficulty walking, speech problems, or a known family history of ALS. Early genetic testing can guide treatment and family planning.
Limitations
- ⚠This test does not detect large exon-level deletions, deep intronic variants, or repeat expansions
- ⚠Variants of uncertain significance (VUS) may be reported; clinical correlation and family studies may be required
- ⚠A negative result does not exclude other forms of ALS or other genetic causes
- ⚠This test is not intended for somatic mutation testing or prenatal diagnosis without prior arrangement
Risks & Considerations
- ●Fainting or dizziness during blood draw
- ●Minor bruising at the venipuncture site
- ●Rare risk of infection or excessive bleeding (very low)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Presence of maternal cell contamination (if prenatal)
- ●Variants in highly repetitive regions may be missed
- ●NGS coverage gaps leading to false negative results
Compare With Similar Tests
| Test | ALS2 Gene Amyotrophic Lateral Sclerosis Type 2, Juvenile NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | ALS2 Gene Amyotrophic Lateral Sclerosis Type 2, Juvenile NGS Genetic Test |
Frequently Asked Questions
What is the ALS2 gene?
What does this NGS genetic test detect?
Who should consider this test?
What sample is required?
Do I need to fast before the test?
How much does the test cost?
How long will I get the report?
Is home sample collection available?
What does a 'Pathogenic variant detected' result mean?
What does 'Variant of uncertain significance' (VUS) mean?
Is this test covered by insurance?
Does a negative result exclude ALS?
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