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ATL1 Gene Neuropathy, hereditary sensory, type 1D NGS Genetic Test

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ATL1 Gene Neuropathy, hereditary sensory, type 1D NGS Genetic Test

Short Name: ATL1 HSN1D NGS Genetic Test

Also known as: ATL1 Gene NGS Test, Hereditary Sensory Neuropathy Type 1D Genetic Test, HSN1D NGS Testing, ATL1-associated Neuropathy Genetic Test

ATL1 Gene Neuropathy, hereditary sensory, type 1D 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 The report is generally issued within 3 to 4 weeks after the sample reaches the laboratory.. 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 pathogenic or likely pathogenic variants in the ATL1 gene in individuals with symptoms of hereditary sensory neuropathy type 1D. The result helps confirm a clinical diagnosis, guide patient management, and enable informed family planning and care decisions.

Test Code
4429
ICD Code
G60.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The report is generally issued within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session to draw a three-generation pedigree and review the family history is required. No fasting is necessary.

Method: Peripheral blood draw, FTA card spot, or extracted DNA submission

Step 2

Laboratory Analysis

A single blood sample is collected in an EDTA tube, or a few drops of blood are spotted on an FTA card. The sample is labelled and sent to the laboratory.

Step 3

Report Delivery

Your sample will be processed in the laboratory. The NGS report is typically ready in 3 to 4 weeks. You will receive a call or report link when results are available.

Timeline: The report is generally issued within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Please arrange a genetic counselling session before the test. The counsellor will document the family history and explain the potential outcomes of the genetic result.
2
During the Test:The test requires a 2-3 mL blood sample or a dried blood spot on FTA card. DNA is then extracted and enriched for the ATL1 gene.
3
After the Test:You will be contacted when the report is ready. A genetic counsellor or geneticist will explain the result and its implications in the clinical context.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the ATL1 gene in individuals with symptoms of hereditary sensory neuropathy type 1D. The result helps confirm a clinical diagnosis, guide patient management, and enable informed family planning and care decisions.

How to Prepare

  • Blood sample should be collected in an EDTA tube.
  • FTA card with one drop of blood is acceptable when venipuncture is difficult.
  • Patient must carry a valid ID and confirmed consent/requisition form.

Doctor's Notes

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

"This NGS test is recommended when hereditary sensory neuropathy or an ATL1-related condition is suspected. Molecular confirmation can refine the prognosis, guide symptom management, and enable testing of at-risk relatives."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA Card
Collection MethodPeripheral blood draw, FTA card spot, or extracted DNA submission

Sample Stability

Whole blood EDTA: 3 to 5 days at 2 to 8 degree Celsius
Extracted DNA: up to 1 year at -20 degree Celsius
FTA card: stable at room temperature for several weeks
Sample Rejection Criteria:
  • Clotted or heavily haemolysed blood sample
  • Unlabelled sample or missing consent/requisition
  • Poor quality or insufficient extracted DNA

Understanding Your Results

The result is interpreted using ACMG guidelines. A negative result means no pathogenic/likely pathogenic variant was identified in the ATL1 gene. Detection of a pathogenic or likely pathogenic variant confirms the diagnosis in the appropriate clinical context. A variant of uncertain significance requires further family segregation studies and genetic counselling.
📊

Positive (Pathogenic or Likely Pathogenic Variant)

Confirms an ATL1-related hereditary sensory neuropathy diagnosis in symptomatic individuals.

📊

Variant of Uncertain Significance (VUS)

The medical significance of this variant is unknown; testing of affected and unaffected family members may help clarify its role.

📊

Negative (No Pathogenic Variant)

No evidence of ATL1-related HSN1D was found; other inherited or acquired causes of neuropathy may need to be considered.

⚠️ When to Consult a Doctor:

If a pathogenic variant is detected, a consultation with a neurologist and a clinical geneticist is recommended for symptom management, family member testing, and recurrence risk counselling.

Limitations

  • ⚠NGS analysis of the ATL1 gene does not detect large copy-number variations (deletions/duplications) unless MLPA or array-CGH is added.
  • ⚠A negative result does not completely rule out hereditary neuropathy caused by other genes.
  • ⚠Variants of uncertain significance may require segregation analysis in family members.
  • ⚠This test is not a substitute for clinical evaluation by a neurologist.

Risks & Considerations

  • ●No significant medical risks associated with this genetic test.
  • ●Minor discomfort or bruising may occur at the blood collection site.

Interfering Factors

  • ●Clotted or haemolysed blood may affect nucleic acid extraction and downstream analysis.
  • ●Rare sequencing artefacts due to homologous/pseudogene regions may require additional validation.
  • ●Samples with poor DNA quality or low quantity may need repeat collection.

Compare With Similar Tests

TestATL1 Gene Neuropathy, hereditary sensory, type 1D NGS Genetic Test
ComparisonATL1 Gene Neuropathy, hereditary sensory, type 1D NGS Genetic TestNGS vs Sanger SequencingNGS vs Single-Site Targeted Mutation AnalysisNGS vs Clinical Diagnosis Alone

Frequently Asked Questions

What is hereditary sensory neuropathy type 1D?
HSN1D is a rare inherited neurological disease caused by mutations in ATL1 gene, leading to progressive loss of pain and temperature sensation, muscle weakness and foot ulcers.
What are the early symptoms of ATL1 gene neuropathy?
Early symptoms include numbness or tingling in the feet and hands, reduced sensitivity to pain, burning discomfort, and later distal wasting and balance problems.
How is this ATL1 NGS genetic test performed?
A small blood sample or FTA card spot is collected, DNA is extracted, and the ATL1 gene is sequenced using next-generation sequencing technology.
Who should take this test?
Individuals with clinical features of hereditary sensory neuropathy, unexplained foot ulcers, family history of HSN1D or related ATL1 conditions, or a need for genetic confirmation should take this test.
Is fasting required for this test?
No fasting is required before sample collection.
How long does it take to get the report?
The report is usually available within 3 to 4 weeks after the sample is received by the laboratory.
What is the cost of the ATL1 NGS genetic test in India?
At DNA Labs India, the test costs Rs 20,000 inclusive of home sample collection and genetic counselling session.
Can a negative result rule out hereditary neuropathy completely?
No. A negative ATL1 test does not exclude hereditary neuropathy caused by other genes. Additional genetic or clinical testing may be needed.
What result classes are reported in this genetic test?
Variants are classified as negative, variant of uncertain significance, or pathogenic/likely pathogenic according to ACMG guidelines.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across major Indian cities. The service is included in the test price.
Why is genetic counselling included in this test?
Genetic tests for hereditary neuropathy have implications for the patient and family. A counsellor helps interpret the result and supports informed decisions.
Does this test detect all types of ATL1 mutations?
The NGS test is validated to detect single-nucleotide variants and small insertions/deletions in coding exons and flanking splice regions. It may not detect large deletions/duplications without additional analysis.
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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