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VAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test

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VAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test

Short Name: VAPB ALS8 NGS Test

Also known as: VAPB Gene Mutation Analysis, ALS8 Genetic Test, VAPB-related Neurodegeneration Test

VAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or FTA Card Blood Spot samples. Results in Results are generally available in 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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

To identify disease-causing variants in the VAPB gene associated with Amyotrophic Lateral Sclerosis Type 8, confirm a clinical diagnosis, guide treatment decisions, and assess familial risk for genetic counselling.

Test Code
3889
Price
₹20,000
Sample Type
Blood or Extracted DNA or FTA Card Blood Spot
Result Time
Results are generally available in 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is necessary to obtain a detailed clinical history and draw a pedigree chart of affected family members.

Method: Blood withdrawal by venipuncture or FTA card spot collection

Step 2

Laboratory Analysis

A small amount of blood is drawn from a vein, or in the case of FTA card collection, a few drops of blood are spotted onto the card. The procedure is simple and completed in about 5 minutes.

Step 3

Report Delivery

The sample is dispatched to the laboratory. Fasting is not required. Resume normal activities immediately.

Timeline: Results are generally available in 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Attend a genetic counselling session; discuss family history and potential impact of results.
2
During the Test:Only a blood sample or FTA card sample is required. No pain out of usual venipuncture sensation.
3
After the Test:Schedule a post-test genetic counselling appointment. If positive, carrier testing for at-risk relatives is recommended.

About This Test

Who Should Get This Test

To identify disease-causing variants in the VAPB gene associated with Amyotrophic Lateral Sclerosis Type 8, confirm a clinical diagnosis, guide treatment decisions, and assess familial risk for genetic counselling.

How to Prepare

  • For blood collection, use an EDTA vacutainer (purple top)
  • For FTA card, apply a single drop of blood per circle, allow to air dry
  • If extracted DNA is sent, ensure it contains at least 200 ng of high-quality DNA
  • Label the sample with patient's name, date of birth, and collection date

Doctor's Notes

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

"Genetic testing for ALS8 is crucial for confirming a clinical diagnosis, enabling early intervention and providing clarity for at-risk family members. A comprehensive clinical history and genetic counselling are essential before and after testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or FTA Card Blood Spot
ContainerEDTA Vacutainer or FTA Card
Collection MethodBlood withdrawal by venipuncture or FTA card spot collection

Sample Stability

Whole blood: stable for 48 hours at 2-8°C; up to 24 hours at 15-25°C
FTA card blood spot: stable at ambient temperature for several weeks, preferably in a dry, dark place
Extracted DNA: stable for at least 1 year at -20°C
Sample Rejection Criteria:
  • Haemolysed, clotted, or grossly lipemic blood samples
  • Insufficient sample volume or DNA quantity
  • Incorrectly labelled sample (name mismatch with requisition)
  • Sample tube leaking or broken

Understanding Your Results

The NGS genetic test for the VAPB gene is interpreted by clinical geneticists and concordant with ACMG-AMP guidelines. The result will be reported as 'Negative', 'Positive', or 'Variant of Uncertain Significance' to guide clinical decision-making.
📊

No variant detected

Negative: no pathogenic variant found in the VAPB gene. It does not exclude hereditary ALS from other genes.

📊

Pathogenic/Likely pathogenic variant

Positive: the variant is disease-associated. The patient has a molecular diagnosis of ALS8; counselling and familial cascade testing recommended.

📊

Variant of Uncertain Significance (VUS)

A variant with unclear impact. Requires further family co-segregation analysis, functional studies, or reclassification; clinical correlation advised.

⚠️ When to Consult a Doctor:

If the result is positive, consult a neurologist for management of ALS symptoms and a clinical geneticist for inheritance counselling and family planning. If VUS, a genetic counsellor can help understand testing benefits and limitations.

Limitations

  • ⚠This test detects mutations specifically in the VAPB gene and does not rule out other genetic causes of ALS
  • ⚠Large deletions, duplications, or deep intronic variants may not be detected by standard NGS
  • ⚠Epigenetic changes, mitochondrial mutations, or other complex genetic factors are not assessed
  • ⚠Incidental findings related to other genes are not reported unless clinically relevant
  • ⚠Interpretation should correlate with clinical and family history

Risks & Considerations

  • ●No significant physical risks beyond standard blood draw
  • ●Potential psychological impact from learning presymptomatic or diagnostic status
  • ●Risk of genetic discrimination in some settings (though largely prevented by Indian law)
  • ●Incidental finding may cause unforeseen information about family relationships

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination with another individual's DNA
  • ●Haemolysed or clotted blood sample
  • ●Recent bone marrow or haematopoietic stem cell transplantation may affect results

Compare With Similar Tests

TestVAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test
ComparisonVAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test

Frequently Asked Questions

What is ALS type 8?
ALS type 8 is a rare familial form of amyotrophic lateral sclerosis caused by mutations in the VAPB gene, which is involved in membrane trafficking and vesicle fusion. It typically presents with muscle weakness and twitching, often progressing to respiratory failure.
What is the VAPB gene and what does it do?
The VAPB gene provides instructions for producing vesicle-associated membrane protein-associated protein B, which is involved in the regulation of membrane trafficking and vesicle fusion inside cells. Mutations in VAPB disrupt this process and lead to motor neuron degeneration.
Who should undergo this NGS genetic test?
This test is indicated for individuals with clinical features of ALS, a family history of ALS8, or those with an identified VAPB mutation in the family. It is also useful for presymptomatic diagnosis during genetic counselling.
What is the cost of the VAPB gene ALS type 8 NGS test in India?
DNA Labs India offers the VAPB Gene ALS Type 8 NGS Genetic Test at a discounted price of Rs 20,000 (20000 INR), with free home sample collection included.
How is the sample collected for the test?
The sample is collected either by drawing 2-5 ml of venous blood into an EDTA vacutainer, or by using a one-drop blood spot on an FTA card. In some cases, extracted DNA may also be submitted.
Is fasting required for the VAPB gene test?
No, fasting is not required. The sample should be maintained at ambient room temperature and can be collected at any time of the day.
How long does it take to get the report?
The test reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Will my insurance cover the cost of this test?
Coverage varies by insurance provider. DNA Labs India recommends checking with your insurance plan. Some private insurers may reimburse for genetic counselling related expenses. The test itself is often considered out-of-pocket.
What does NGS technology mean?
Next-generation sequencing (NGS) is a high-throughput method that sequences millions of DNA fragments in parallel. It allows the entire VAPB gene to be sequenced accurately in a single run for detection of small deletions, insertions, and single nucleotide variants.
Can this test detect all types of ALS?
No, this test is specific to the VAPB gene. Other genetic causes of ALS such as SOD1, TARDBP, FUS, or C9orf72 expansions are not evaluated. If inherited ALS is strongly suspected, a comprehensive ALS NGS panel is recommended.
How will I receive the test report?
The report will be shared through a secure online portal and also sent by email and WhatsApp. You will receive raw data files (FASTQ and VCF) in addition to the clinical report.
Is genetic counselling necessary before and after the test?
Yes, genetic counselling is an important component of the test. It helps in drawing a pedigree chart, understanding the inheritance pattern, and interpreting the implications of a positive or negative result for the patient and family.
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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