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NEU1 Gene Neuraminidase deficiency NGS Genetic Test

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NEU1 Gene Neuraminidase deficiency NGS Genetic Test

Short Name: NEU1 NGS Test

Also known as: Sialidosis, Neuraminidase Deficiency Disorder

NEU1 Gene Neuraminidase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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

The purpose of this test is to diagnose neuraminidase deficiency by identifying mutations in the NEU1 gene using NGS technology. It also aids in carrier testing for family members and supports genetic counseling sessions to inform family planning decisions.

Test Code
2194
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling recommended prior to testing to discuss implications, benefits, and limitations. Ensure patient provides informed consent.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw procedure using sterile techniques. For FTA card, use one drop of blood as per instructions.

Step 3

Report Delivery

Sample is labeled correctly and transported to the laboratory under ambient room temperature for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose, implications, and limitations. Genetic counseling is advised to discuss personal and family history.
2
During the Test:Blood sample collection via venipuncture or finger prick. Procedure is quick with minimal discomfort.
3
After the Test:Wait for report delivery in 3-4 weeks. Schedule a follow-up with a healthcare provider to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose neuraminidase deficiency by identifying mutations in the NEU1 gene using NGS technology. It also aids in carrier testing for family members and supports genetic counseling sessions to inform family planning decisions.

How to Prepare

  • Fasting is not required
  • Use sterile collection techniques to avoid contamination
  • Label sample with patient details accurately
  • For blood samples, use EDTA tubes; for FTA cards, follow specific instructions
  • Ensure proper storage and transportation conditions

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing neuraminidase deficiency and guiding family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for up to 24 hours at room temperature
Extracted DNA stable for several days if stored properly
FTA cards can be stored at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed, lipemic, or contaminated samples
  • Insufficient sample volume
  • Improper labeling or missing patient information
  • Samples not stored or transported correctly

Understanding Your Results

Results indicate the presence or absence of mutations in the NEU1 gene. A positive result confirms neuraminidase deficiency or carrier status, while a negative result suggests no pathogenic mutations detected, but clinical correlation is essential.
Positive for pathogenic variants: Diagnosis of neuraminidase deficiency in symptomatic individuals or carrier status in asymptomatic individuals
Negative: No pathogenic mutations detected; consider other diagnoses if symptoms persist
Variant of uncertain significance (VUS): Further testing, family studies, or clinical follow-up recommended
Report includes detailed mutation information for genetic counseling
⚠️ When to Consult a Doctor:

Consult a geneticist, metabolic specialist, or healthcare provider if symptoms are present, family history exists, or to discuss test results and implications for management and family planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require clinical correlation and may need confirmatory testing
  • ⚠Not validated for prenatal diagnosis without additional validation
  • ⚠Variant of uncertain significance (VUS) may be reported, requiring further evaluation

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising, soreness, or infection at the puncture site
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Poor sample quality or DNA degradation
  • ●Contamination during sample collection or processing
  • ●Technical errors in NGS sequencing
  • ●Presence of interfering substances in blood samples

Frequently Asked Questions

What is neuraminidase deficiency?
Neuraminidase deficiency is a rare autosomal recessive genetic disorder caused by mutations in the NEU1 gene, leading to a deficient neuraminidase enzyme. This results in the buildup of sialylated complex sugars in the body's cells, causing symptoms such as developmental delays, muscle weakness, seizures, hepatosplenomegaly, and other neurological complications.
How is neuraminidase deficiency diagnosed?
Diagnosis involves a thorough clinical evaluation, detailed medical and family history review, and molecular genetic testing such as NGS to identify pathogenic mutations in the NEU1 gene. Biochemical enzyme assays may also support the diagnosis.
What does the NEU1 Gene NGS Genetic Test involve?
This test uses Next-Generation Sequencing technology to comprehensively screen the NEU1 gene for mutations from a blood or extracted DNA sample, providing an accurate and definitive molecular diagnosis for neuraminidase deficiency.
Who should get this test?
Individuals presenting with symptoms of neuraminidase deficiency, those with a confirmed family history of sialidosis, couples planning a family with known carrier status, and patients requiring confirmation of a clinical diagnosis should consider this test.
What is the cost of the NEU1 Gene NGS Genetic Test?
The NEU1 Gene Neuraminidase Deficiency NGS Genetic Test costs INR 20000.0 at DNA Labs India. This price includes sample collection, genetic analysis, and report generation with free home sample collection available across India.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for the NEU1 Gene NGS Genetic Test in numerous cities across India, making it convenient for patients to get tested from the comfort of their homes.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection. Reports can be accessed via the online portal, email, or WhatsApp for patient convenience.
What do the test results mean?
A positive result confirms the presence of pathogenic mutations in the NEU1 gene, indicating neuraminidase deficiency or carrier status. A negative result means no pathogenic mutations were detected, but clinical correlation is essential. A variant of uncertain significance (VUS) may require further evaluation.
Can this test be used for carrier testing?
Yes, the NEU1 Gene NGS Genetic Test can reliably identify carriers of NEU1 gene mutations. This is particularly useful for family planning, genetic counseling, and assessing the risk of passing the condition to offspring.
Are there any risks associated with the test?
The only risks are those associated with a routine blood draw, such as minor bruising, soreness, or rare infection at the puncture site. The genetic testing process itself poses no medical risks to the patient.
How accurate is the NGS technology used in this test?
NGS technology is highly accurate and sensitive for detecting point mutations, small insertions, and deletions in the NEU1 gene. However, results should always be interpreted within a clinical context, and confirmatory testing may be recommended in certain cases.
What steps should be taken after receiving the test results?
After receiving results, consult a geneticist, metabolic specialist, or qualified healthcare provider to discuss findings, understand implications for health management, explore treatment options, and receive genetic counseling for family planning decisions.
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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