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ALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test

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ALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test

Short Name: ALS2 Gene NGS Test

Also known as: ALS2-related spastic paralysis, Infantile Onset Ascending Hereditary Spastic Paralysis, IAHSP

ALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks from the date of sample receipt. Urgent analysis may be available on request at additional cost.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 purpose of this NGS genetic test is to identify mutations in the ALS2 gene that cause Infantile Onset Ascending Hereditary Spastic Paralysis (IAHSP). The test is used to confirm a clinical diagnosis, identify carriers in at-risk families, guide medical management and intervention strategies, and support informed reproductive decisions through genetic counselling.

Test Code
4510
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks from the date of sample receipt. Urgent analysis may be available on request at additional cost.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is recommended before the test to construct a family pedigree and discuss the implications of results.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein, or a finger-prick blood spot on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No restrictions are necessary after sample collection. Patients can resume normal activities immediately. Results are generally available within 3 to 4 weeks.

Timeline: Reports are typically delivered within 3 to 4 weeks from the date of sample receipt. Urgent analysis may be available on request at additional cost.

Patient Instructions

1
Before the Test:Before the test, patients may benefit from a genetic counselling session to understand the purpose, scope, and potential outcomes of genetic testing. The counsellor will draw a family pedigree and discuss how results may impact the patient and relatives.
2
During the Test:The test involves providing a biological sample (usually blood or FTA card spot). No sedation or anesthesia is required. The entire process takes only a few minutes.
3
After the Test:After the sample collection, there is no downtime. The laboratory will process the sample and issue a comprehensive report in 3 to 4 weeks. A genetic counsellor will explain the result and its implications if requested.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify mutations in the ALS2 gene that cause Infantile Onset Ascending Hereditary Spastic Paralysis (IAHSP). The test is used to confirm a clinical diagnosis, identify carriers in at-risk families, guide medical management and intervention strategies, and support informed reproductive decisions through genetic counselling.

How to Prepare

  • No fasting is required
  • Fill the FTA card with one drop of blood if using the home sample collection card
  • Ensure proper labeling of the sample with patient name and date of birth
  • Inform the lab about any ongoing medications or blood transfusions in the past 48 hours

Doctor's Notes

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

"Early genetic confirmation in IAHSP is crucial for accurate prognosis, family counselling, and therapeutic planning. NGS-based sequencing of ALS2 provides a comprehensive and reliable approach."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer or FTA card
Collection MethodBlood draw or FTA card spot

Sample Stability

Blood (EDTA): 24-48 hours at 2-8°C
FTA card: Stable at room temperature for several months
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Insufficient sample quantity
  • Improper labeling or mismatch with requisition form
  • Sample shipped without appropriate cold packaging

Understanding Your Results

The test report will be interpreted by a clinical geneticist. Results are correlated with the patient's clinical presentation and family history. A positive result confirms the genetic cause and enables targeted management.
Pathogenic or likely pathogenic variant identified: Confirms the diagnosis of ALS2-related spastic paralysis
Variant of uncertain significance (VUS): Further family testing or functional studies may be required
No pathogenic variant identified: Does not fully exclude IAHSP; consider broader genetic testing
Carrier status (single heterozygous variant): Individual is unaffected but may pass the variant to offspring if the other parent is also a carrier
⚠️ When to Consult a Doctor:

If your child shows early signs of muscle stiffness, spasticity, delayed motor development, or if you have a family history of ALS2-related disorders, consult a pediatric neurologist or clinical geneticist promptly. Early genetic testing can help in timely intervention and family planning.

Limitations

  • ⚠NGS may not detect large deletions/duplications, deep intronic variants, or complex rearrangements in the ALS2 gene
  • ⚠Variants of uncertain clinical significance (VUS) may be reported and require additional family studies for clarification
  • ⚠This test does not rule out other genetic causes of hereditary spastic paraplegia; broader panels or whole exome sequencing may be needed
  • ⚠Negative results in tested family members do not exclude germline mosaicism in a parent

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Fainting or dizziness during blood collection (rare)
  • ●Psychological impact of receiving a genetic diagnosis should be addressed with professional counselling

Interfering Factors

  • ●Recent blood transfusion can dilute the patient's own DNA and lead to false-negative results
  • ●Haematopoietic stem cell transplantation (bone marrow transplant) can cause mixed donor-recipient DNA
  • ●Sample contamination during collection or extraction may compromise results
  • ●Insufficient DNA quantity or quality may require repeat sampling

Compare With Similar Tests

TestALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test
ComparisonALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test

Frequently Asked Questions

What is the ALS2 gene spastic paralysis NGS genetic test?
This test uses next-generation sequencing (NGS) to analyze the ALS2 gene for mutations that cause Infantile Onset Ascending Hereditary Spastic Paralysis (IAHSP), a rare neurological disorder.
What is the cost of this genetic test at DNA Labs India?
The test cost is Rs 20000.0, inclusive of home sample collection and genetic counselling. No hidden charges are applicable.
What sample is needed for the test?
The sample can be whole blood in an EDTA vacutainer, extracted DNA, or one drop of blood on an FTA card. All are acceptable.
Is fasting required before sample collection?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long will it take to get the test reports?
The test results are usually available within 3 to 4 weeks from the time the sample is received by the laboratory.
Is home sample collection available?
Yes, we provide free home sample collection for all online bookings across India in major cities and many smaller towns.
Who should take this genetic test?
Children or adults presenting with progressive spasticity, weakness, or difficulty walking, and individuals with a family history of IAHSP or ALS2-related disorders may benefit from this test.
Can this test be used for prenatal diagnosis?
Prenatal testing for known ALS2 mutations can be arranged. Please consult a genetic counsellor and our laboratory to discuss the feasibility and process.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic or likely pathogenic variant in the ALS2 gene, confirming the genetic basis of the symptoms. Genetic counselling is recommended.
What does a negative test result mean?
A negative result means no pathogenic variant was detected in the ALS2 gene. It does not entirely exclude IAHSP, and further testing may be considered based on clinical judgement.
Will insurance cover this genetic test?
Most public insurance schemes do not cover genetic testing. Private insurance coverage varies by policy. We recommend checking with your provider. Tax benefits may apply in some cases.
How do I book an appointment for this test?
You can book the test online through the DNA Labs India website or contact our customer care at +91-XXXXXXXXXX. Our team will schedule a convenient time for home collection or lab visit.
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.

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