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VPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test

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VPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test

Short Name: VPS54 Gene ALS NGS Test

Also known as: VPS54 Gene Analysis, VPS54 ALS Targeted NGS, Amyotrophic Lateral Sclerosis VPS54 Gene Test

VPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally issued within 3 to 4 weeks from sample receipt, depending on sequencing completion and variant confirmation.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 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 test is to detect mutations in the VPS54 gene in individuals with clinical suspicion of ALS or a family history consistent with VPS54-related motor neuron disease. It also helps in risk assessment for at-risk family members after appropriate genetic counselling.

Test Code
3899
ICD Code
G12.21
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3 to 4 weeks from sample receipt, depending on sequencing completion and variant confirmation.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger confirmation if required
Step 1

Sample Collection

No fasting is required. Patients should provide consent and complete clinical history form. A genetic counselling session may be needed before blood collection to document family history.

Method: Peripheral Blood Draw / FTA Spot / DNA Submission

Step 2

Laboratory Analysis

A small blood sample is drawn by a trained phlebotomist. If using FTA card, one drop of blood is applied on the card and allowed to dry.

Step 3

Report Delivery

No special precautions are needed. The sample should be transported to the laboratory as per instructions.

Timeline: Reports are generally issued within 3 to 4 weeks from sample receipt, depending on sequencing completion and variant confirmation.

Patient Instructions

1
Before the Test:No fasting is required. Complete the clinical history form and genetic counselling if scheduled.
2
During the Test:A simple blood sample or FTA blood spot is collected. The procedure takes only a few minutes.
3
After the Test:You may resume normal activities immediately. The sample will be processed in the laboratory and reports will be shared in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS test is to detect mutations in the VPS54 gene in individuals with clinical suspicion of ALS or a family history consistent with VPS54-related motor neuron disease. It also helps in risk assessment for at-risk family members after appropriate genetic counselling.

How to Prepare

  • Bring a valid ID and any prior neurological or genetic testing reports.
  • Ensure the consent form is signed.
  • For FTA card: air-dry the blood spot for at least 30 minutes before placing in the provided envelope.
  • Do not refrigerate or freeze the FTA card.

Doctor's Notes

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

"Neurological evaluation, EMG and nerve conduction studies remain essential to the diagnosis of ALS. This genetic test should not be used in isolation. A positive or negative VPS54 result must be interpreted alongside the complete clinical picture."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeWhole blood: 1-2 mL; FTA card: one blood spot; DNA: as required by lab protocol
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral Blood Draw / FTA Spot / DNA Submission

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at 2-8°C
Extracted DNA: stable for 1 week at 2-8°C; for longer storage, -20°C
FTA card: stable for several weeks at room temperature
Sample Rejection Criteria:
  • Clotted or haemolysed blood
  • Insufficient sample volume
  • Unlabelled or mislabelled specimen
  • Sample leaking in transit
  • FTA card that has been wet or contaminated

Understanding Your Results

Results of this test are intended for use by clinicians and genetic counsellors in conjunction with clinical findings. Variants are classified according to internationally accepted guidelines.
📊

No pathogenic variant detected

No evidence of a VPS54-related genetic cause in this sample. Other genetic or non-genetic causes should be considered.

📊

Pathogenic variant detected

Supports the diagnosis of VPS54-related ALS in the appropriate clinical context. Family testing may be recommended.

📊

Variant of uncertain significance (VUS)

The clinical impact is unclear. Segregation analysis, functional studies and genetic counselling may be required.

⚠️ When to Consult a Doctor:

Patients with muscle weakness, slurred speech, difficulty swallowing, or a family history of ALS should consult a neurologist. Genetic results should be discussed with a clinical geneticist or genetic counsellor.

Limitations

  • ⚠NGS may not detect large gene rearrangements, repeat expansions or deep intronic variants.
  • ⚠A negative VPS54 result does not rule out ALS due to other genetic or non-genetic causes.
  • ⚠Variants of uncertain significance (VUS) may be reported and may require family studies.
  • ⚠This test is not intended for ancestry or pharmacogenomic purposes.

Risks & Considerations

  • ●No significant physical risks from a blood draw
  • ●Possible bruising, pain, or infection at puncture site
  • ●Emotional or psychological impact of genetic results
  • ●Privacy and confidentiality considerations

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination
  • ●PCR or sequencing artifacts
  • ●Incorrect sample labelling

Compare With Similar Tests

TestVPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test
ComparisonVPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test

Frequently Asked Questions

What is the VPS54 gene amyotrophic lateral sclerosis NGS genetic test?
It is a targeted next-generation sequencing test that analyzes the VPS54 gene for pathogenic variants that may be related to amyotrophic lateral sclerosis. The test helps clinicians investigate a genetic cause in selected patients with ALS/MND.
What sample is needed for this test?
The test can be performed on whole blood (EDTA), extracted DNA, or one drop of blood collected on an FTA card. The sample must be labelled and transported according to the laboratory instructions.
Is fasting required before giving the blood sample?
No, fasting is not required. You can eat and drink normally before the test unless your doctor advises otherwise.
What is the cost of the VPS54 ALS NGS genetic test?
The test costs INR 20,000, which includes genetic analysis, result interpretation, and the final report. Free home sample collection is available for online bookings in many Indian cities.
How long will it take to get my results?
The turnaround time is 3 to 4 weeks. This includes sequencing, bioinformatics analysis, variant interpretation, and authorisation of the report by a clinical geneticist.
What does a positive VPS54 genetic test result mean?
A positive result means a pathogenic or likely pathogenic variant was identified in the VPS54 gene. The doctor will correlate this with your clinical findings and family history before making a final diagnosis.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the VPS54 gene in the tested sample. It does not rule out ALS caused by other genes or acquired causes.
Can this test determine if I will develop ALS in the future?
For asymptomatic individuals with a family history, predictive testing can provide risk information but must be done only after formal genetic counselling and informed consent. The test itself does not predict the exact age of onset or severity.
Are there any risks involved in the test?
The test requires a simple blood sample or FTA blood spot. Risks are minimal and limited to mild pain, bruising, or rarely infection at the blood draw site. Genetic privacy risks are managed through confidentiality protocols.
Will my insurance cover this test?
Coverage depends on your insurance policy and the clinical justification provided by your doctor. Government schemes such as PMJAY, CGHS, ECHS or ESIC may or may not cover this test. We recommend checking with your insurer or scheme coordinator.
What is the role of genetic counselling in this test?
Genetic counselling helps patients understand the purpose, limitations and implications of the test. It is also important for interpreting family history and discussing reproductive and surveillance options.
Who should order this test?
This test should be ordered by a neurologist or clinical geneticist after a thorough clinical evaluation. It is not recommended as a screening test for the general population.
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

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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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✓ 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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