Giant Axonal Neuropathy-1 (GAN) Gene Analysis
Giant axonal neuropathy-1 (GAN) gene analysis Price
Brief Details
What is the Giant Axonal Neuropathy-1 (GAN) Gene Analysis?
The Giant Axonal Neuropathy-1 Gene Analysis is a genetic blood test used to diagnose giant axonal neuropathy, a rare inherited disorder that affects the nerves of the brain, spinal cord, and peripheral nervous system. This condition leads to progressive weakness, balance problems, and loss of motor and sensory functions, often starting in early childhood.
The test analyses the GAN gene using Next Generation Sequencing technology. It requires an EDTA blood sample and helps confirm the diagnosis when clinical symptoms and neurological findings suggest giant axonal neuropathy.
What Does the Giant Axonal Neuropathy-1 (GAN) Gene Analysis Measure?
This genetic test evaluates changes in the GAN gene that are responsible for nerve fibre damage:
- Detection of disease causing variants in the GAN gene
- Confirmation of giant axonal neuropathy as the cause of progressive neurological symptoms
- Differentiation from other inherited neuropathies or neurodegenerative disorders
- Support for prognosis assessment and long term care planning
- Guidance for genetic counselling and family screening
Giant Axonal Neuropathy-1 (GAN) Gene Analysis: Who Needs It and Why It’s Done
What Symptoms May Call for a Giant Axonal Neuropathy-1 (GAN) Gene Analysis?
Doctors may recommend this test if you or your child experience:
- Progressive muscle weakness starting in childhood
- Difficulty walking or frequent falls
- Loss of sensation or poor coordination
- Curly or tightly curled hair associated with neurological symptoms
- Developmental regression or delayed milestones
- Peripheral neuropathy with central nervous system involvement
Who Should Get a Giant Axonal Neuropathy-1 (GAN) Gene Analysis?
This test may be advised for:
- Children with unexplained progressive neuropathy
- Individuals with clinical features suggestive of giant axonal neuropathy
- Patients with abnormal nerve conduction or neurological imaging results
- Families with a known history of giant axonal neuropathy
- Couples with a genetic risk planning future pregnancies
Why is the Giant Axonal Neuropathy-1 (GAN) Gene Analysis Done?
- The test helps confirm the genetic cause of giant axonal neuropathy, allowing accurate diagnosis, appropriate supportive care, informed family counselling, and avoidance of unnecessary investigations.
Importance of the Giant Axonal Neuropathy-1 (GAN) Gene Analysis
- Giant axonal neuropathy is a rare but severe neurodegenerative condition. Early genetic confirmation helps families understand the condition, plan supportive therapies, anticipate disease progression, and make informed reproductive decisions. It also enables timely referral to multidisciplinary care teams for symptom management and quality of life support.
Giant Axonal Neuropathy-1 (GAN) Gene Analysis Booking & Reports – Metropolis Healthcare
How to Book the Giant Axonal Neuropathy-1 (GAN) Gene Analysis and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Giant Axonal Neuropathy-1 (GAN) Gene Analysis, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection. - Safe Home Sample Collection
Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols. - Sample Tracking Updates
You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform. - Accurate Laboratory Testing
Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology. - Quick and Easy Reports
Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.
Is Home Sample Collection for Giant Axonal Neuropathy-1 (GAN) Gene Analysis Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the Giant Axonal Neuropathy-1 (GAN) Gene Analysis. This service reduces the need for travel, ensures professional sample handling, and maintains strict quality standards throughout the testing process.
How Long Does It Take to Get a Giant Axonal Neuropathy-1 (GAN) Gene Analysis Report?
Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.
Where Can I See or Get Giant Axonal Neuropathy-1 (GAN) Gene Analysis Results?
- You can access your test results through the Metropolis Healthcare website or mobile app by logging in with your credentials.
Reports are also shared via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.
Interpreting Giant Axonal Neuropathy-1 (GAN) Gene Analysis Results
What Your Giant Axonal Neuropathy-1 (GAN) Gene Analysis Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| GAN gene | No disease causing variant detected | Giant axonal neuropathy leading to progressive neurodegeneration | Symptoms may be due to other inherited neuropathies |
Understanding Abnormal Giant Axonal Neuropathy-1 (GAN) Gene Analysis Results
| Gene | What a Pathogenic Variant May Indicate |
|---|---|
| GAN | Disruption of nerve fibre structure causing progressive motor and sensory neuropathy |
How Should You Prepare for a Giant Axonal Neuropathy-1 (GAN) Gene Analysis?
This genetic test requires minimal preparation:
- No fasting required
- Maintain normal hydration
- Inform your doctor about any ongoing medications
- Share detailed clinical and family history
- Ensure test requisition and consent forms are completed
How Is a Giant Axonal Neuropathy-1 (GAN) Gene Analysis Done? (Step-by-Step Procedure)
The test is performed using a standard blood collection process:
- Preparation: A tourniquet is tied around your arm to make veins more visible
- Cleaning: The puncture site is cleaned with antiseptic
- Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
- Completion: The needle is removed, and a bandage is applied
- Processing: The sample is analysed using Next Generation Sequencing to identify disease causing variants in the GAN gene
Conditions That May Affect Giant Axonal Neuropathy-1 (GAN) Gene Analysis Accuracy
Certain patient related factors may influence result interpretation:
- Recent blood transfusion
- Incomplete or inaccurate clinical history
- Mosaic genetic variants that may be difficult to detect
- Variants of uncertain significance requiring further evaluation
Diseases That a Giant Axonal Neuropathy-1 (GAN) Gene Analysis Can Help Detect
- Giant axonal neuropathy
- Related inherited peripheral neuropathies requiring differential diagnosis
References
- Bomont P., Cavalier L., Blondeau F., et al. (2000). The gene encoding gigaxonin, mutated in giant axonal neuropathy, is involved in intermediate filament organization. Nature Genetics, 26(3), 370–374. PMID: 11062477
- Kuhlenbäumer G., Timmerman V., Bomont P. (2015). Giant axonal neuropathy. Handbook of Clinical Neurology, 132, 301–320. PMID: 26564093
- Meriin A.B., Gabai V.L., Yaglom J.A., et al. (2002). Gigaxonin-mediated proteasomal degradation of intermediate filament proteins. Journal of Cell Biology, 158(5), 829–840. PMID: 12235124
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