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ALS2 Gene Primary lateral sclerosis, juvenile NGS Genetic Test

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ALS2 Gene Primary lateral sclerosis, juvenile NGS Genetic Test

Short Name: ALS2 Gene PLS Juvenile NGS Test

Also known as: Juvenile Primary Lateral Sclerosis Genetic Test, ALS2 Gene Mutation Analysis, JPLS NGS Test

ALS2 Gene Primary lateral sclerosis, juvenile 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 Reports are generally delivered within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

This NGS genetic test is intended to detect disease-causing variants in the ALS2 gene that are associated with juvenile primary lateral sclerosis (JPLS). The test aids in establishing a molecular diagnosis, enabling accurate genetic counselling, prognosis, and family testing.

Test Code
4485
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally delivered within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. Please carry your previous medical records, MRI reports, and neurological evaluation summary.

Method: Peripheral venous blood collection or finger-prick for FTA card

Step 2

Laboratory Analysis

A small blood sample will be collected by our trained phlebotomist in an EDTA vacutainer. If using FTA card, a single drop of blood is placed on the card.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately. The sample will be transported to our laboratory under appropriate storage conditions.

Timeline: Reports are generally delivered within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Discuss your symptoms and family history with your doctor. No special preparation is required for this test.
2
During the Test:A blood sample will be collected by a trained phlebotomist. Alternatively, a drop of blood can be collected on an FTA card if home collection is chosen.
3
After the Test:Once the sample is received at the laboratory, the turnaround time is 3 to 4 weeks. You will receive an email/WhatsApp notification when your report is ready.

About This Test

Who Should Get This Test

This NGS genetic test is intended to detect disease-causing variants in the ALS2 gene that are associated with juvenile primary lateral sclerosis (JPLS). The test aids in establishing a molecular diagnosis, enabling accurate genetic counselling, prognosis, and family testing.

How to Prepare

  • Avoid sample collection during active infection or after blood transfusion within the past 72 hours.
  • For FTA card, let the blood spot air dry for at least 30 minutes before sealing.
  • Label the sample clearly with patient name, date of birth, and collection date.
  • Sample should be transported at room temperature if reaching the laboratory within 48 hours.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Accurate genetic diagnosis is essential for prognostic counselling and informed family planning. I recommend this test in selected patients with juvenile-onset upper motor neuron syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per collection protocol
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral venous blood collection or finger-prick for FTA card

Sample Stability

EDTA whole blood: 24 hours at room temperature, 72 hours at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: Stable for several months at room temperature
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Incorrectly labeled sample
  • Sample received in expired or incorrect collection tube
  • Insufficient quantity of sample

Understanding Your Results

This test report should be interpreted by a qualified clinical geneticist in the context of the patient's clinical presentation, family history, and additional laboratory findings.
📊

Pathogenic variant detected

Confirms a genetic diagnosis of ALS2-related disorder; enables targeted family testing and reproductive counselling.

📊

No pathogenic variant detected

Does not exclude PLS or other motor neuron diseases; consider further genetic testing or other diagnostic modalities.

📊

Variant of Uncertain Significance (VUS) detected

Further segregation analysis in family members and functional studies may be needed to determine clinical significance.

⚠️ When to Consult a Doctor:

If you experience progressive motor symptoms such as muscle weakness, stiffness, spasticity, or difficulty with speech/swallowing, or if you have a known family history of ALS2-related disease, consult a neurologist or clinical geneticist for evaluation.

Limitations

  • ⚠This test detects single nucleotide variants and small indels in coding exons and intron-exon boundaries of the ALS2 gene. It does not detect large deletions/duplications, structural rearrangements, or multi-exon copy number changes.
  • ⚠A negative result does not rule out a genetic cause of the patient's symptoms; other genes may be involved.
  • ⚠A variant of uncertain significance (VUS) may be reported; further family segregation studies may be required to clarify its clinical significance.

Risks & Considerations

  • ●Minimal risk of mild discomfort or bruising at the blood collection site
  • ●Rare possibility of bleeding, hematoma, or infection at the needle site

Interfering Factors

  • ●Insufficient or degraded DNA sample
  • ●Maternal cell contamination in prenatal samples
  • ●Presence of homologous pseudogenes may interfere with alignment
  • ●Variants in regulatory or deep intronic regions may not be captured

Compare With Similar Tests

TestALS2 Gene Primary lateral sclerosis, juvenile NGS Genetic TestALS2 Gene NGS TestMotor Neuron Disease NGS PanelHereditary Spastic Paraplegia NGS PanelWhole Exome Sequencing
ComparisonALS2 Gene Primary lateral sclerosis, juvenile NGS Genetic Test

Frequently Asked Questions

What is the ALS2 Gene Primary Lateral Sclerosis Juvenile NGS Genetic Test?
This is a Next Generation Sequencing test that analyzes the ALS2 gene for pathogenic mutations associated with juvenile primary lateral sclerosis (JPLS) and related motor neuron disorders.
What is the cost of this ALS2 gene genetic test at DNA Labs India?
The test costs INR 20,000, which includes a genetic counseling session, NGS analysis, bioinformatic interpretation, and a detailed clinical report. Free home sample collection is provided for online bookings.
What sample is needed for this test?
The sample can be blood (in an EDTA tube), extracted DNA, or one drop of blood on an FTA card. The FTA card method allows easy and non-invasive sample transport.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get reports?
Reports are typically delivered within 3 to 4 weeks from the date the sample is received in the laboratory.
What is the clinical use of this test?
This test is used to confirm a genetic cause of juvenile primary lateral sclerosis, differentiate it from other motor neuron diseases, and provide accurate genetic counseling for affected families.
What are the symptoms of juvenile primary lateral sclerosis?
Symptoms include progressive weakness and stiffness of the legs, muscle spasticity, difficulty with fine motor skills, slurred speech, swallowing difficulties, and upper motor neuron signs. Onset is usually in childhood or early adolescence.
Can this test diagnose amyotrophic lateral sclerosis (ALS)?
Mutations in ALS2 are associated with both juvenile PLS and juvenile ALS. This test detects ALS2 mutations, but ALS is a clinical diagnosis supported by multiple investigations; the test is not a sole diagnostic marker for all forms of ALS.
Will my health insurance cover this genetic test?
Coverage for genetic testing varies between insurance providers. DNA Labs India does not directly bill insurance; you can submit the invoice to your insurer for possible reimbursement. Please check with your provider for pre-authorization requirements.
Is genetic counseling included with this test?
Yes, the test price includes a genetic counseling session to draw a pedigree chart and discuss the implications of results for the patient and family members.
Can the test be performed on an FTA card sample?
Yes, the test accepts one drop of blood on an FTA card, which is a convenient option for home collection and transit.
In which cities is home sample collection available?
We offer free home sample collection across India, including Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, and many other cities. Please contact us to check availability in your location.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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