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GAN Gene Giant axonal neuropathy type 1 NGS Genetic Test

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GAN Gene Giant axonal neuropathy type 1 NGS Genetic Test

Short Name: GAN Gene NGS Test

Also known as: GAN Gene Sequencing, Giant Axonal Neuropathy Type 1 Genetic Test

GAN Gene Giant axonal neuropathy type 1 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 3 to 4 weeks from the date the sample is received at the laboratory.. 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 mutations in the GAN gene using NGS, supporting the clinical diagnosis of Giant Axonal Neuropathy Type 1 and providing information for carrier testing and family planning.

Test Code
4100
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A comprehensive clinical history and genetic counselling session are recommended before testing. Please provide any relevant medical records and family pedigree information. No special preparation or fasting is required.

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

Step 2

Laboratory Analysis

A small amount of blood will be collected by a trained phlebotomist. If providing a saliva or FTA card sample, follow the collection kit instructions carefully.

Step 3

Report Delivery

No restrictions are required. You may resume normal activities immediately after sample collection.

Timeline: 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:A clinical history and genetic counselling session are recommended to draw a family pedigree and discuss the implications of the test.
2
During the Test:The sample is sent to the genetics laboratory where DNA is isolated and the GAN gene is sequenced using NGS technology.
3
After the Test:The laboratory provides a conclusive clinical report along with raw data files FASTQ and VCF for transparency. A follow-up consultation is advised to understand the report.

About This Test

Who Should Get This Test

To detect mutations in the GAN gene using NGS, supporting the clinical diagnosis of Giant Axonal Neuropathy Type 1 and providing information for carrier testing and family planning.

How to Prepare

  • No fasting is required.
  • Provide a valid ID and the completed requisition form.
  • For FTA card, apply one drop of blood as directed and allow it to dry.
  • If submitting extracted DNA, ensure it is clearly labelled and stored appropriately.

Doctor's Notes

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

"Genetic counselling before and after GAN testing helps families understand the inheritance pattern, clinical implications, and reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumePer laboratory protocol
ContainerEDTA tube / DNA vial / FTA card
Collection MethodBlood draw, extracted DNA submission, or FTA card blood spot

Sample Stability

Whole blood should be transported to the laboratory promptly.
FTA card blood spots can be stored at room temperature.
Extracted DNA should be stored at -20°C for long-term stability.
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Unlabelled or mislabelled sample
  • Insufficient quantity of sample
  • Expired or damaged FTA card
  • Sample not reaching the laboratory in optimal condition

Understanding Your Results

This genetic test is interpreted by a clinical geneticist. Results should be considered alongside clinical findings, family history, and genetic counselling.
Two pathogenic variants in the GAN gene: consistent with a diagnosis of Giant Axonal Neuropathy Type 1.
One pathogenic variant in an unaffected individual: likely carrier for autosomal recessive GAN.
No pathogenic variants detected: GAN is unlikely but not excluded if clinical suspicion is high.
Variant of uncertain significance: requires further segregation analysis and genetic counselling.
⚠️ When to Consult a Doctor:

If the test result is positive or uncertain, or if you have concerns about neurological symptoms in a child, speak with a neurologist and a clinical geneticist.

Limitations

  • ⚠NGS identifies sequence variants but may not detect all structural rearrangements.
  • ⚠A negative result does not rule out other hereditary neuropathies.
  • ⚠Variants of uncertain significance may require additional family studies.
  • ⚠Results should be interpreted in the clinical context by a geneticist.

Risks & Considerations

  • ●Minimal risk of minor pain, bruising, or bleeding at the blood draw site.
  • ●No significant medical risks are associated with saliva or FTA card collection.

Interfering Factors

  • ●Maternal cell contamination in prenatal samples
  • ●Low-quality or degraded DNA
  • ●Large genomic deletions or duplications that may not be detected by standard NGS
  • ●Variants in deep intronic or regulatory regions not covered by the test

Compare With Similar Tests

TestGAN Gene Giant axonal neuropathy type 1 NGS Genetic TestGAN Gene NGS TestHereditary Neuropathy NGS Panel
ComparisonGAN Gene Giant axonal neuropathy type 1 NGS Genetic Test

Frequently Asked Questions

What is the GAN Gene Giant Axonal Neuropathy Type 1 NGS Genetic Test?
This test uses next-generation sequencing to read the GAN gene, looking for mutations that cause Giant Axonal Neuropathy Type 1. It costs INR 20,000 at DNA Labs India and can be performed on blood, extracted DNA, or FTA card blood spot.
What is the cost of this genetic test?
The price is INR 20,000. DNA Labs India offers free home sample collection in many Indian cities when booked online.
What is Giant Axonal Neuropathy (GAN)?
GAN is a rare, inherited, autosomal recessive neurological disorder caused by mutations in the GAN gene that affect the gigaxonin protein, leading to progressive nerve damage.
What are the common symptoms of GAN?
The common symptoms begin in early childhood and include limb weakness, difficulty walking, loss of sensation, abnormal spine curvature, and optic atrophy.
How is this test performed?
A small blood sample or FTA card blood spot is collected. NGS technology is used to sequence the GAN gene. Results are generally ready within 3 to 4 weeks.
Is fasting required before the test?
No. Fasting is not required for this genetic test.
Can this test identify carriers of GAN?
NGS can identify pathogenic heterozygous variants, which is useful for carrier screening if family history is known. However, clinical interpretation should be done with genetic counselling.
How are results interpreted?
If a pathogenic variant is present in two copies, it confirms the diagnosis. A single pathogenic variant in an unaffected person may indicate carrier status. If no variant is found, GAN is less likely but other neuropathies should be considered.
What do raw data, FASTQ, and VCF files mean?
FASTQ and VCF are raw and processed sequencing data files. DNA Labs India shares these files along with the clinical report for transparency, allowing re-analysis or second opinions.
Will this test tell me if my child will develop GAN?
In a child with neurological symptoms, a positive result supports a GAN diagnosis. In at-risk or unborn children, pre- and post-test genetic counselling is essential for understanding the result.
Can this test be done during pregnancy?
Prenatal genetic testing usually requires fetal samples such as amniotic fluid or chorionic villus biopsy. The standard blood/FTA card test is for postnatal screening. Please speak with a genetic specialist.
Is home sample collection available for this test?
Yes. DNA Labs India offers free home sample collection in major cities across India for online bookings. The cost remains 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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