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GNE Gene Nonaka myopathy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GNE Gene Nonaka myopathy NGS Genetic Test

Short Name: GNE NGS Test

Also known as: GNE Gene NGS Test, Nonaka Myopathy Genetic Test, Hereditary Inclusion Body Myopathy NGS

GNE Gene Nonaka myopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / Dried Blood on FTA Card samples. Results in Turnaround time is 3 to 4 weeks from the date the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAdults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify pathogenic variants in the GNE gene, confirming the clinical diagnosis of Nonaka myopathy (hereditary inclusion body myopathy). It also helps in carrier detection and genetic counseling for at-risk family members.

Test Code
4433
Price
₹20,000
Sample Type
Blood / Extracted DNA / Dried Blood on FTA Card
Result Time
Turnaround time is 3 to 4 weeks from the date the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Avoid consuming alcohol for 24 hours before the test. Inform the laboratory if you have received a blood transfusion in the last 3 months, as this may affect the NGS analysis.

Method: Venipuncture / Dried Blood Spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein in your arm. The process takes about 5-10 minutes.

Step 3

Report Delivery

After sample collection, you may return to normal activities. There are no restrictions.

Timeline: Turnaround time is 3 to 4 weeks from the date the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Before the test, you will receive a genetic counseling session. A pedigree (family tree) will be drawn to assess inheritance patterns.
2
During the Test:During the test, a blood sample is obtained. The DNA is isolated, fragmented, and sequenced using NGS technology.
3
After the Test:After the test, results are reviewed and confirmed. A detailed clinical report is generated and shared with you via the portal.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the GNE gene, confirming the clinical diagnosis of Nonaka myopathy (hereditary inclusion body myopathy). It also helps in carrier detection and genetic counseling for at-risk family members.

How to Prepare

  • No fasting needed
  • Use an EDTA vacutainer for blood collection
  • Store FTA card in a dry tube
  • Label sample with patient ID and date of collection

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for Nonaka myopathy should always be accompanied by pre- and post-test genetic counseling to help families understand inheritance patterns and reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / Dried Blood on FTA Card
Sample Volume2 ml to 3 ml
ContainerEDTA Vacutainer / FTA Card
Collection MethodVenipuncture / Dried Blood Spot

Sample Stability

EDTA blood at 2-8°C: 72 hours
Extracted DNA at -20°C: 6 months
Dried blood spot on FTA card at 15-25°C: 12 months
Sample Rejection Criteria:
  • Hemolyzed blood
  • Sample volume less than 1 ml
  • Leaked or damaged sample container
  • Patient ID not matching request form

Understanding Your Results

Results are interpreted by board-certified clinical geneticists. A positive result provides a definitive diagnosis of Nonaka myopathy. A negative result does not exclude the condition, particularly if clinical suspicion remains high. VUS results require further family studies and clinical correlation.
Positive for Pathogenic Variant: Confirms diagnosis and allows family screening
Negative: No disease-causing variant detected. Alternative causes should be investigated
Variant of Uncertain Significance: Additional testing of affected family members is recommended
⚠️ When to Consult a Doctor:

If your result is positive, consult a neurologist for disease management and a genetic counselor to understand family implications. If you have any questions after receiving the report, contact our genetic counseling team.

Limitations

  • ⚠Large deletions and duplications are not detected unless MLPA is requested
  • ⚠Deep intronic variants may be missed
  • ⚠Variants in genes other than GNE are not analyzed

Risks & Considerations

  • ●Minimal bleeding from the puncture site
  • ●Slight pain or bruising that resolves quickly
  • ●No risk of infection when gloves and sterilized equipment are used

Interfering Factors

  • ●Clotted blood sample
  • ●Excessive hemolysis
  • ●DNA degradation from heat exposure
  • ●Contaminating maternal cells in cord blood

Compare With Similar Tests

TestGNE Gene Nonaka myopathy NGS Genetic Test
ComparisonGNE Gene Nonaka myopathy NGS Genetic Test

Frequently Asked Questions

What is the GNE Gene Nonaka Myopathy NGS Test?
This is a next-generation sequencing test that analyzes the GNE gene for mutations associated with Nonaka myopathy (hereditary inclusion body myopathy). It provides a definitive genetic diagnosis and helps guide management.
What does Nonaka myopathy cause?
Nonaka myopathy causes progressive muscle weakness, especially in the distal lower limbs, leading to foot drop, difficulty walking, and eventual muscle wasting. Symptoms usually appear in adulthood.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000. This includes genetic counseling, NGS analysis, and a clinical report along with raw data files (FASTQ and VCF).
What sample is needed for the GNE Gene NGS Test?
The test can be done on EDTA blood, extracted DNA, or one drop of blood on an FTA card. The sample is used to extract genomic DNA for sequencing.
Is fasting required for the test?
No, fasting is not required. You can eat and drink normally before sample collection.
How long does it take to get results?
The turnaround time is approximately 3 to 4 weeks after the sample is received at the laboratory.
Do I get raw data files with the report?
Yes, DNA Labs India shares FASTQ, VCF, and BAM files along with the clinical test report, which is unique and transparent.
Is home sample collection available?
Yes, free home sample collection is provided for online bookings across major Indian cities.
Who should consider this test?
This test is recommended for individuals with clinical features of Nonaka myopathy, patients with a family history, carriers, and couples planning a family with a known mutation.
What is the role of genetic counseling in this test?
Genetic counseling is essential to draw the family pedigree, explain inheritance patterns, discuss the risks and benefits of testing, and interpret results. It is included in the test cost.
Can this test detect all mutations?
NGS detects single nucleotide variants, small insertions, and deletions. It does not detect large rearrangements, and coverage may exclude some regulatory regions.
Is the test covered by insurance?
Most insurance plans in India do not cover genetic testing. It is advisable to check with your provider. DNA Labs India offers a competitive price of INR 20,000.
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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Your medical data is protected under Indian law.

✓ 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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