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SETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test

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SETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test

Short Name: SETX ALS4 NGS Test

Also known as: SETX ALS4 NGS Test, SETX Gene Sequencing Test, ALS Type 4 Genetic Test, Senataxin Gene NGS Test

SETX Gene Amyotrophic Lateral Sclerosis Type 4 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 delivered in 3 to 4 weeks because the NGS workflow, variant confirmation, and clinical interpretation require multi-step quality checks.. 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 detect pathogenic variants in the SETX gene associated with ALS Type 4, confirm the genetic cause of motor neuron disease, facilitate early and accurate diagnosis, and enable appropriate genetic counseling and family planning.

Test Code
3886
CPT Code
N/A
ICD Code
G12.21
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks because the NGS workflow, variant confirmation, and clinical interpretation require multi-step quality checks.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A clinical history of the patient and a three-generation family pedigree must be provided. Secure a genetic counseling session before blood collection. Keep the requisition form handy for the phlebotomist.

Method: Peripheral venipuncture / FTA spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect 2-3 ml of peripheral blood in an EDTA vacutainer or a few drops of blood on an FTA card. The procedure is safe, takes approximately 5 minutes, and does not require any special preparation.

Step 3

Report Delivery

The blood sample is labeled and securely transported to the laboratory under cold chain. Results will be available in 3 to 4 weeks. The clinical report and raw data files (FASTQ, VCF) will be provided.

Timeline: Reports are delivered in 3 to 4 weeks because the NGS workflow, variant confirmation, and clinical interpretation require multi-step quality checks.

Patient Instructions

1
Before the Test:Complete the clinical history form and attend a genetic counseling session. A three-generation pedigree chart will be reviewed. No fasting is required.
2
During the Test:A phlebotomist will collect a venous blood sample in an EDTA tube, or a few drops of blood may be placed on an FTA card. The procedure is simple and quick.
3
After the Test:The sample will be transported to the laboratory for NGS analysis. You will receive the clinical report and raw data files (FASTQ, VCF) within 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic variants in the SETX gene associated with ALS Type 4, confirm the genetic cause of motor neuron disease, facilitate early and accurate diagnosis, and enable appropriate genetic counseling and family planning.

How to Prepare

  • No fasting is required.
  • A clinical history of the patient and a three-generation family pedigree is required.
  • Secure genetic counseling appointment before blood collection.
  • Keep the requisition form handy for the phlebotomist.
  • Schedule the home collection through the online booking portal.

Doctor's Notes

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

"Genetic confirmation of ALS Type 4 through SETX gene NGS analysis is crucial for precise diagnosis, as the clinical features may overlap with other motor neuron disorders. It also helps identify at-risk family members and supports informed reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or as per collection kit
ContainerEDTA vacutainer / FTA card
Collection MethodPeripheral venipuncture / FTA spot

Sample Stability

EDTA whole blood at 18-25°C
EDTA whole blood at 2-8°C
Extracted DNA at -20°C
FTA card at ambient temperature
Sample Rejection Criteria:
  • Clotted blood sample
  • Severely hemolyzed sample
  • Sample without proper labeling
  • Inadequate blood volume (< 1 ml)
  • Sample received more than 72 hours after collection without cold storage

Understanding Your Results

Results of this NGS genetic test for the SETX gene should be interpreted by a qualified clinical geneticist and/or physician in the context of the patient's clinical history and family pedigree.
Pathogenic or likely pathogenic variant detected in SETX: Consistent with a diagnosis of ALS Type 4, particularly when the phenotype matches.
No pathogenic variant detected: Does not rule out other ALS types; consider testing of other genes.
Variant of uncertain significance (VUS) detected: Cannot definitively classify; additional family studies may be informative.
Clinical correlation is essential; genetic testing should not replace a full neurologic evaluation.
⚠️ When to Consult a Doctor:

If you have muscle weakness, twitching, difficulty speaking or swallowing, or a family history of ALS, consult a neurologist for evaluation and genetic counseling before and after the test.

Limitations

  • ⚠This NGS test targets only the SETX gene; other ALS-associated genes are not included.
  • ⚠Deep intronic variants, large structural rearrangements, and repetitive region expansions may not be detected using this assay.
  • ⚠A negative result does not exclude all forms of ALS or inherited motor neuron diseases.
  • ⚠Variant interpretation may change over time as new clinical information becomes available.
  • ⚠This test is not intended for prenatal diagnosis or preimplantation testing without prior genetic counseling.

Risks & Considerations

  • ●Minor pain or bruising at the puncture site
  • ●Dizziness or vasovagal reaction during blood draw
  • ●Hematoma formation
  • ●Rarely, local infection at the venipuncture site

Interfering Factors

  • ●Low quality or degraded DNA leading to insufficient sequencing coverage
  • ●Contamination of the blood sample with maternal cells in neonates
  • ●Hematological conditions such as clonal hematopoiesis of indeterminate potential (CHIP)
  • ●Sample mix-up or cross-contamination during collection or processing
  • ●Variants in the GC-rich promoter or deep intronic regions may not be captured

Compare With Similar Tests

TestSETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test
ComparisonSETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test

Frequently Asked Questions

What is the SETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test?
This test uses next-generation sequencing to analyze the SETX gene to detect pathogenic variants that cause ALS Type 4, a rare inherited form of amyotrophic lateral sclerosis.
What is ALS Type 4?
ALS Type 4 is a slowly progressive, autosomal dominant form of ALS caused by mutations in the SETX gene. It usually begins in adulthood and affects motor neurons, leading to muscle weakness, twitching, and eventually paralysis.
What is the cost of the test at DNA Labs India?
The SETX ALS4 NGS Genetic Test costs INR 20000 (Rs 20000.0) at DNA Labs India. Free home sample collection is available across India.
What sample types are accepted for this test?
The test accepts 2-3 ml of venous blood in an EDTA vacutainer, isolated DNA, or one drop of blood on an FTA card.
Does the test require fasting?
No, fasting is not required. You can eat and drink normally before sample collection.
How long will the reports take?
Reports are issued in 3 to 4 weeks from the date of sample receipt.
What is the advantage of NGS over traditional Sanger sequencing for this test?
NGS provides high-throughput, deep sequencing of the complete SETX coding region and splice sites in a single test, reducing turnaround time and enabling simultaneous detection of multiple variant types.
What is senataxin?
Senataxin is a protein encoded by the SETX gene, involved in RNA processing, transcription regulation, and DNA repair. Loss of its function leads to motor neuron degeneration.
Will the test give me my raw data?
Yes, DNA Labs India provides raw data files (FASTQ, VCF) along with the conclusive clinical report, supporting transparency and the ability to obtain a second medical opinion.
Does a negative result exclude all types of ALS?
No. A negative SETX test only excludes ALS Type 4 associated with pathogenic SETX variants. Other ALS genes are not analyzed in this test. If suspicion remains, a broader ALS gene panel may be recommended.
What is the difference between a pathogenic variant and a VUS?
A pathogenic variant is disease-causing, while a variant of uncertain significance (VUS) has unknown clinical impact. VUS results require further family segregation studies and functional evidence to clarify their role.
How do I book the test?
You can book online from the DNA Labs India website or call the +91-XXXXXXXXXX number. Home sample collection is available in Mumbai, Delhi, Bangalore, Hyderabad, Chennai, and many other 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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