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DNA Labs India

VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic Test

Short Name: VAMP1 SAX1 NGS

Also known as: Spastic Ataxia 1, SAX1, VAMP1 Gene Analysis, Hereditary Spastic Ataxia NGS

VAMP1 Gene Spastic ataxia type 1, autosomal dominant 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 available in 3 to 4 weeks from the date of sample receipt.. 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 test is used to establish or confirm a molecular diagnosis of spastic ataxia type 1, support clinical evaluation in patients with features such as spastic ataxia, and identify pathogenic variants in the VAMP1 gene for family risk assessment.

Test Code
4509
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available in 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is needed. A genetic counselling session to draw a pedigree chart of family members affected with spastic ataxia type 1 is recommended before testing.

Method: Blood draw / FTA card spot / DNA sample submission

Step 2

Laboratory Analysis

A healthcare professional will collect blood by venipuncture, or a trained individual may prepare a dried blood spot on an FTA card. Patients may also submit extracted DNA as per laboratory instructions.

Step 3

Report Delivery

The sample should be sent to the laboratory according to the collection kit instructions. No restrictions are placed on daily activities.

Timeline: Reports are available in 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:No fasting is needed. The treating physician will review the clinical indication. Genetic counselling and a pedigree chart are recommended before testing.
2
During the Test:Sample collection is a simple procedure. For blood, a small amount of blood is drawn from the arm. For FTA card, a few drops of blood are applied onto the card.
3
After the Test:A negative result does not exclude all hereditary ataxias; additional testing may be considered if clinical suspicion remains.

About This Test

Who Should Get This Test

The test is used to establish or confirm a molecular diagnosis of spastic ataxia type 1, support clinical evaluation in patients with features such as spastic ataxia, and identify pathogenic variants in the VAMP1 gene for family risk assessment.

How to Prepare

  • Pre-test genetic counselling is required to draw a pedigree chart of affected family members.
  • Collect peripheral blood in an EDTA tube, prepare a dried blood spot on FTA card, or submit extracted DNA as per the collection kit.
  • Ensure the test requisition form includes clinical history, symptoms, family history and referring physician details.

Doctor's Notes

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

"If a VAMP1 pathogenic variant is identified, family members at risk should be offered targeted testing only after genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per DNA Labs India sample acceptance guidelines
ContainerEDTA tube / FTA card / DNA collection tube
Collection MethodBlood draw / FTA card spot / DNA sample submission

Sample Stability

EDTA whole blood: 24-48 hours at 2-8°C
FTA card blood spot: stable at ambient temperature for several weeks
Extracted DNA: stable at -20°C; avoid repeated freeze-thaw cycles
Sample Rejection Criteria:
  • Reject haemolysed, clotted, or insufficient samples
  • Reject mislabelled or unlabeled samples
  • Reject samples not accompanied by a complete requisition form and signed consent

Understanding Your Results

The result of this NGS test should be interpreted by a clinical geneticist. Pathogenic or likely pathogenic variants in the VAMP1 gene support a diagnosis of spastic ataxia type 1, autosomal dominant. The report must be correlated with clinical findings, family history and post-test genetic counselling.
Pathogenic or likely pathogenic variant: molecular diagnosis of spastic ataxia type 1 is confirmed.
Variant of uncertain significance: additional family segregation studies and clinical correlation are recommended.
Benign or likely benign variant: not considered causative.
No pathogenic variant identified: does not exclude the diagnosis; broader ataxia gene panel may be considered.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you have unexplained spastic ataxia, a family history of ataxia, or if a primary care provider suspects a genetic cause. Genetic testing should only be done after pre-test counselling and clinical assessment.

Limitations

  • ⚠NGS may not detect all types of genetic variants such as large deletions/duplications, structural rearrangements or trinucleotide repeat expansions.
  • ⚠A variant of uncertain significance (VUS) may be reported and require further family studies.
  • ⚠A negative result does not exclude all hereditary ataxias; correlation with clinical findings is essential.

Risks & Considerations

  • ●Minimal risk of bruising or haematoma from venipuncture
  • ●Mild transient pain or bleeding at the puncture site
  • ●Fainting during blood collection

Interfering Factors

  • ●Sample contamination or DNA degradation
  • ●Incorrect sample labelling or requisition details
  • ●Rare deep intronic variants not fully covered by standard NGS
  • ●Large structural rearrangements or repeat expansions may not be detected

Compare With Similar Tests

TestVAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic TestVAMP1 Gene NGS Genetic TestComprehensive Ataxia NGS Panel
ComparisonVAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is the cost of the VAMP1 gene spastic ataxia type 1 NGS test at DNA Labs India?
The cost of this NGS genetic test at DNA Labs India is Rs 20,000. Free home sample collection is included for online bookings across many cities in India.
What is Spastic Ataxia Type 1?
Spastic ataxia type 1 is a rare inherited neurological disorder caused by pathogenic variants in the VAMP1 gene. It follows an autosomal dominant pattern and affects coordination, balance and muscle control.
Why is NGS used for VAMP1 gene testing?
NGS technology allows accurate and efficient analysis of the VAMP1 gene. It can also allow simultaneous analysis of multiple genes when needed, while identifying small sequence variants associated with spastic ataxia type 1.
What sample is required for this test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the VAMP1 gene NGS test?
No, fasting is not required for this genetic test.
How long will the VAMP1 gene NGS test report take?
Reports are generally issued in 3 to 4 weeks from the date of sample receipt.
What does autosomal dominant inheritance mean?
Autosomal dominant means only one copy of the mutated VAMP1 gene is enough to cause the condition. A child of an affected parent has a 50% chance of inheriting the mutation.
Will I get raw data files with my test report?
Yes, DNA Labs India provides raw data files, including FASTQ and VCF, along with the clinical test report for transparency.
Is genetic counselling needed before the test?
Yes, pre-test genetic counselling is recommended to review the clinical history, draw a pedigree chart and obtain informed consent before testing.
What are the common symptoms of spastic ataxia type 1?
Common symptoms include difficulty with coordination and balance, muscle stiffness and spasticity, tremors, slurred speech, swallowing difficulty, weakness or paralysis in limbs and vision problems.
Can this test detect all causes of ataxia?
No, this test is specific to the VAMP1 gene. If VAMP1 testing is negative but clinical suspicion remains, a broader ataxia or hereditary spastic paraplegia gene panel should be considered.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings of this VAMP1 gene NGS test in multiple cities across India.
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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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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