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ATL1 Gene SPG3A NGS Genetic Test

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ATL1 Gene SPG3A NGS Genetic Test

Short Name: ATL1 SPG3A NGS

Also known as: ATL1 Gene Mutation Analysis, SPG3A Genetic Test, Atlastin-1 Gene Sequencing

ATL1 Gene SPG3A 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 within 3 to 4 weeks after the sample reaches the laboratory and passes quality checks.. 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

This test is intended to detect mutations in the ATL1 gene associated with hereditary spastic paraplegia type 3A. The result helps confirm or exclude SPG3A, supports clinical diagnosis, and provides important information for family counselling and management.

Test Code
4543
CPT Code
Not specified
ICD Code
G11.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available within 3 to 4 weeks after the sample reaches the laboratory and passes quality checks.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is needed. However, a doctor's referral and a pre-test genetic counselling session are recommended before blood collection or FTA spot submission.

Method: Peripheral blood collection, extracted DNA submission, or one drop blood on FTA card

Step 2

Laboratory Analysis

For a blood sample, a trained phlebotomist will collect a small volume of blood in an EDTA tube. If using an FTA card, a single spot of blood is applied to the card and allowed to air-dry.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the laboratory. The report will be shared online, by email, or via WhatsApp once ready.

Timeline: Reports are available within 3 to 4 weeks after the sample reaches the laboratory and passes quality checks.

Patient Instructions

1
Before the Test:No fasting is required. You should bring your physician referral, clinical records, and any previous genetic test reports. Pre-test genetic counselling is strongly recommended.
2
During the Test:The sample is collected either by venepuncture for blood or by applying one drop of blood to an FTA card. The collection takes only a few minutes.
3
After the Test:There are no activity restrictions after sample collection. The laboratory will process the sample for NGS and your report will be shared after validation.

About This Test

Who Should Get This Test

This test is intended to detect mutations in the ATL1 gene associated with hereditary spastic paraplegia type 3A. The result helps confirm or exclude SPG3A, supports clinical diagnosis, and provides important information for family counselling and management.

How to Prepare

  • Bring the test requisition form and a valid ID
  • Fasting is not required
  • For FTA card, avoid touching the marked circle before use
  • Ensure the sample is labelled correctly
  • Store the FTA card in the provided moisture-free pouch after drying

Doctor's Notes

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

"This test is most useful when a patient has clinical features suggestive of hereditary spastic paraplegia and the diagnosis needs molecular confirmation. Genetic results must always be interpreted alongside the neurological examination and family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume1-2 mL blood or 1 drop on FTA card
ContainerEDTA Vacutainer / FTA card / Extracted DNA vial
Collection MethodPeripheral blood collection, extracted DNA submission, or one drop blood on FTA card

Sample Stability

Sample Rejection Criteria:
  • Haemolysed blood sample
  • Clotted EDTA blood sample
  • Contaminated or wet FTA card
  • Unlabeled or mislabeled sample
  • Sample delivered beyond the recommended stability time

Understanding Your Results

The test report should be interpreted by a clinical geneticist or neurologist in the context of the patient's symptoms, family history, and neurological examination. A positive result confirms the genetic diagnosis of SPG3A; a negative result reduces the likelihood that ATL1 is the cause.
📊

Positive

Recommended action: Genetic counselling and evaluation of at-risk family members

Result type: Pathogenic variant detected

📊

Likely positive

Recommended action: Confirm with clinical correlation and family segregation studies

Result type: Likely pathogenic variant detected

📊

Negative

Recommended action: Consider other HSP genes or clinical reassessment

Result type: No pathogenic variant detected

📊

Uncertain

Recommended action: Counselling; additional testing and family studies may be needed

Result type: Variant of uncertain significance reported

⚠️ When to Consult a Doctor:

If you have persistent lower-limb spasticity, gait instability, or a family history of HSP, consult a neurologist or clinical geneticist. Your doctor can determine whether this genetic test is appropriate for your condition.

Limitations

  • ⚠NGS may not detect large gene deletions, duplications, deep intronic variants, or epigenetic changes
  • ⚠A variant of uncertain significance does not provide a definitive diagnosis
  • ⚠This test only analyses the ATL1 gene, not other HSP-related genes
  • ⚠Genetic test results cannot precisely predict age of onset or severity
  • ⚠A negative result does not exclude other forms of hereditary spastic paraplegia

Risks & Considerations

  • ●No significant physical risks from a routine blood draw
  • ●Possible bruising or mild discomfort at the collection site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Possibility of detecting an unsolicited genetic finding

Interfering Factors

  • ●Insufficient DNA quantity or quality
  • ●Contamination of the sample during collection
  • ●PCR inhibitors in the extracted DNA
  • ●Sample mislabeling or mix-up
  • ●Recent allogeneic bone marrow transplant may affect germline DNA analysis

Compare With Similar Tests

TestATL1 Gene SPG3A NGS Genetic TestATL1 Gene SPG3A NGS Genetic TestHereditary Spastic Paraplegia HSP NGS PanelWhole Exome Sequencing WES
ComparisonATL1 Gene SPG3A NGS Genetic Test

Frequently Asked Questions

What is the ATL1 Gene SPG3A NGS Genetic Test?
This NGS-based genetic test examines the ATL1 gene to detect mutations associated with SPG3A, a form of hereditary spastic paraplegia.
What is SPG3A?
SPG3A is a rare type of hereditary spastic paraplegia caused by mutations in the ATL1 gene, leading to progressive stiffness and weakness in the lower limbs.
Who should consider this test?
Individuals with symptoms like progressive leg spasticity, gait disturbance, urinary urgency, or a family history of HSP may consider this test after clinical evaluation.
Which sample is required for this test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for the ATL1 Gene SPG3A NGS Genetic Test.
How long does the test take?
Reports are typically available within 3 to 4 weeks after sample receipt.
What does the test cost in India?
The total cost is INR 20,000, including genetic testing, result interpretation, and genetic counselling at DNA Labs India.
What will the test report tell me?
The report will indicate whether a pathogenic or likely pathogenic variant was detected in the ATL1 gene, or if no mutation was found.
Is a variant of uncertain significance considered a diagnosis?
No, a VUS is not a definitive diagnosis. It may require further family studies and clinical correlation for interpretation.
Can this test be done without a doctor's prescription?
No, medical consultation and pre-test genetic counselling are recommended before ordering this test.
Does insurance cover this test?
Coverage depends on the insurance policy and scheme. DNA Labs India offers this test at a discounted price of INR 20,000 with free home sample collection.
What is the need for genetic counselling?
Genetic counselling helps patients and families understand the result, inheritance pattern, implications for relatives, and future reproductive options.
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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✓ 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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