Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel
Charcot-Marie- Tooth and Sensory Neuropathies Gene Panel Price
Brief Details
What Is the Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel?
The Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel is a genetic blood test that helps identify inherited causes of nerve damage affecting movement and sensation. These conditions often begin in childhood or early adulthood and may worsen gradually over time.
The test analyses multiple genes known to affect peripheral nerve structure and function. Identifying a genetic cause helps confirm the diagnosis and avoid unnecessary investigations.
What Does the Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Measure?
This test analyses genes involved in nerve signal transmission and myelin structure to:
- Detect disease causing genetic variants linked to inherited neuropathies
- Differentiate hereditary neuropathies from acquired nerve disorders
- Support accurate diagnosis when nerve conduction studies are inconclusive
- Assist in family risk assessment and counselling
Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel: Who Needs It and Why It’s Done
What Symptoms May Call for a Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel?
Your doctor may recommend this test if you have:
- Gradual weakness in feet, legs, hands, or arms
- Loss of sensation, numbness, or tingling in limbs
- High foot arches, foot drop, or frequent ankle sprains
- Difficulty with balance, walking, or fine motor skills
- Long-standing neuropathy with no clear cause
Who Should Get a Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel?
This test is useful for:
- Individuals with suspected inherited neuropathy
- Patients with early-onset or slowly progressive nerve symptoms
- People with a family history of Charcot-Marie-Tooth disease
- Individuals with abnormal nerve conduction study results
Why Is the Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Done?
The test helps identify whether nerve symptoms are caused by an inherited condition, supporting precise diagnosis and long-term care planning.
Importance of the Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel
A confirmed genetic diagnosis helps guide physiotherapy, orthopaedic care, and symptom management. It also provides clarity about disease progression and helps family members understand their own risk.
Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Booking & Reports – Metropolis Healthcare
How to Book the Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel, 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 next generation sequencing 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 Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Available Near You?
Yes, Metropolis Healthcare offers home sample collection for this test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.
How Long Does It Take to Get the Report?
Reports are usually available in around 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.
Where Can I See or Get Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Results?
You can view and download your report through the Metropolis Healthcare website or app. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.
Interpreting Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Results
What Your Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| Neuropathy related genes | No disease causing variant detected | Inherited Charcot-Marie-Tooth disease or related sensory neuropathy | Neuropathy due to non genetic or currently undetectable causes |
Understanding Abnormal Charcot-Marie-Tooth and Sensory Neuropathies Results by Gene Group
| Gene Group | What a Pathogenic Variant May Indicate |
|---|---|
| PMP22, MPZ, GJB1 | Demyelinating forms of Charcot-Marie-Tooth disease |
| MFN2, GDAP1 | Axonal neuropathies affecting nerve fibres |
| SH3TC2, MTMR2 | Severe early-onset neuropathies |
| TRPV4, SCN9A | Sensory neuropathies with pain or temperature sensitivity issues |
How Should You Prepare for a Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel?
This test requires minimal preparation:
- No fasting required
- Continue your usual medications unless advised otherwise
- Inform your doctor about nerve symptoms and family history
- Ensure the test requisition form and clinical history are completed
- Maintain normal hydration before sample collection
How Is a Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Done? (Step-by-Step Procedure)
The test is performed using a simple 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: About 3 to 5 ml of blood is drawn into an EDTA vacutainer
- Completion: The needle is removed, and a bandage is applied
- Processing: The sample is analysed using next generation sequencing
Conditions That May Affect Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Accuracy
Some factors may influence result interpretation:
- Incomplete clinical information or family history
- Variants of uncertain significance
- Genetic changes outside the tested gene list
- Complex inheritance patterns
Diseases That a Charcot-Marie-Tooth and Sensory Neuropathies Gene Panel Can Help Detect
- Charcot-Marie-Tooth disease
- Hereditary motor neuropathies
- Hereditary sensory neuropathies
- Mixed motor and sensory neuropathies
References
- Pareyson D., Saveri P., Pisciotta C. (2017). New developments in Charcot-Marie-Tooth neuropathy. Current Opinion in Neurology, 30(5), 471–480. PMID: 28787373
- Saporta A.S., Shy M.E. (2013). Inherited peripheral neuropathies. Neurologic Clinics, 31(2), 597–619. PMID: 23642729
- Fridman V., Reilly M.M. (2015). Inherited neuropathies. Seminars in Neurology, 35(4), 407–423. PMID: 26517609
Frequently asked questions
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