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NEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to NGS Genetic Test

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NEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to NGS Genetic Test

Short Name: NEFH ALS Susceptibility NGS Test

Also known as: NEFH Gene ALS Susceptibility Test, NEFH Neurofilament Heavy Gene Testing, ALS Genetic Susceptibility NGS

NEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to 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 Results are typically available 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 test is to identify pathogenic variants in the NEFH gene that may increase susceptibility to amyotrophic lateral sclerosis. Early identification can help with monitoring, lifestyle planning, and providing genetic information for family members at risk.

Test Code
3891
CPT Code
81407
ICD Code
Z13.71
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient should carry a valid patient ID and any relevant family history documents. Genetic counseling will be provided before sample collection.

Method: Peripheral blood collection by venipuncture or dried blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect 2-3 ml of peripheral blood in an EDTA tube, or a single blood spot will be applied to an FTA card. For extracted DNA samples, the appropriate volume will be transferred to a sterile tube.

Step 3

Report Delivery

The sample is stored at appropriate temperature and transported to the lab within the required stability window. The patient may resume routine activities immediately.

Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Before the test, a genetic counseling session is conducted to collect family history and draw a pedigree chart. This session helps the clinician select the most appropriate genetic test for the patient's situation.
2
During the Test:The DNA is extracted from the sample and the NEFH gene is amplified and sequenced using NGS technology. The full coding region and splice sites are analyzed with a bioinformatics pipeline.
3
After the Test:The report is generated and reviewed by a clinical geneticist. The patient undergoes a post-test counseling session to discuss results, implications, and follow-up recommendations.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the NEFH gene that may increase susceptibility to amyotrophic lateral sclerosis. Early identification can help with monitoring, lifestyle planning, and providing genetic information for family members at risk.

How to Prepare

  • No fasting required.
  • Inform the laboratory about any blood disorders or medications that may affect sample quality.
  • Sign the informed consent form for genetic testing.
  • Provide accurate family history information for pedigree analysis.

Doctor's Notes

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

"ALS is a complex disease with multiple genetic contributors. Testing NEFH in the appropriate clinical context helps in risk stratification and family counseling. However, a negative NEFH result does not exclude other ALS-associated genes."

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 whole blood in EDTA or 5 µl blood on FTA card
ContainerEDTA vial, FTA card, or DNA elution tube
Collection MethodPeripheral blood collection by venipuncture or dried blood spot on FTA card

Sample Stability

24-48 hours for FTA card
72 hours for whole blood in EDTA
Long-term for extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample quantity
  • Contaminated or improperly labeled sample
  • Expired collection tube or broken packaging

Understanding Your Results

This test provides a full sequencing analysis of the NEFH gene. The result is reported as either no pathogenic variant detected, a pathogenic/likely pathogenic variant, or a variant of uncertain significance. The interpretation should be done by a clinical geneticist in the context of family history and clinical findings.
📊

No pathogenic variant detected

No mutation in the NEFH gene was identified. The individual does not have increased risk attributable to NEFH mutations.

📊

Pathogenic or likely pathogenic variant detected

A mutation known or likely to cause susceptibility to ALS was found. Genetic counseling is strongly recommended for the patient and at-risk family members.

📊

Variant of uncertain significance (VUS) detected

A genetic change was found that is not yet classified as benign or pathogenic. Further testing and family segregation studies may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or a genetic counselor for personalized risk interpretation and management if you have a family history of ALS or have received a positive or uncertain result from this test.

Limitations

  • ⚠NGS may not detect all types of mutations, such as large deletions, duplications, or repeat expansions.
  • ⚠Pathogenic variants in other ALS-related genes may not be detected by this targeted test.
  • ⚠Variants of uncertain significance may be reported and require additional family studies or further testing.
  • ⚠A negative result does not eliminate the possibility of developing ALS.

Risks & Considerations

  • ●Minor bleeding or bruising at the venipuncture site
  • ●Pain or soreness during blood draw
  • ●Anxiety related to waiting for genetic results
  • ●Potential for psychological impact from result findings

Interfering Factors

  • ●Contamination of blood or DNA sample
  • ●Recent allogeneic blood transfusion or bone marrow transplantation
  • ●Poor quality or degraded DNA
  • ●Hematological malignancy with clonal hematopoiesis

Compare With Similar Tests

TestNEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to NGS Genetic TestSingle-Gene NEFH SequencingALS Multigene NGS Panel
ComparisonNEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to NGS Genetic Test

Frequently Asked Questions

What is amyotrophic lateral sclerosis (ALS)?
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually respiratory failure.
What is the NEFH gene?
The NEFH gene provides instructions for making the heavy neurofilament protein, which is a key structural component of neuronal cytoskeleton. Mutations in this gene have been associated with susceptibility to ALS.
How is this NGS genetic test performed?
A blood sample is collected from the patient. DNA is extracted and the NEFH gene is sequenced using next-generation sequencing technology to identify any mutations.
What does a positive NEFH mutation result mean?
A positive result means that a pathogenic or likely pathogenic mutation was found in the NEFH gene, which may increase the person's susceptibility to developing ALS. It does not guarantee that the person will develop the disease.
Who should consider taking this test?
People with a family history of ALS, individuals showing early motor symptoms, or those who wish to know their genetic risk after genetic counseling may consider this test.
Is fasting required for this test?
No, fasting is not required. You can eat and drink normally before the test.
What type of sample is needed?
A blood sample collected in an EDTA tube, or a single drop of blood on an FTA card, or already extracted DNA can be used for this test.
How long does it take to get the report?
The test report is typically available within 3 to 4 weeks after the sample reaches the laboratory.
What does 'susceptibility' to ALS mean?
Susceptibility means that the person has a higher chance of developing ALS compared to the general population, but the disease is not inevitable. It is not a diagnostic test for ALS.
Can this test diagnose ALS?
No, this test does not diagnose ALS. It only identifies NEFH gene variants that may increase susceptibility. ALS diagnosis is made through clinical evaluation and other neurological tests.
Will insurance cover this genetic test?
This test is generally not covered by government health schemes. Some private insurance plans may cover it if clinically indicated; please check with your insurer.
Are there any risks associated with the test?
The only risks are minor and related to blood collection, such as slight bruising or dizziness. Genetic testing may cause psychological discomfort, which is why pre- and post-test counseling is recommended.
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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