Charcot-Marie-Tooth and sensory neuropathies gene panel

Charcot-Marie-Tooth (CMT) & Sensory Neuropathies Gene Panel

Detect inherited genetic causes of peripheral neuropathies with comprehensive gene panel testing.

What is this test?

The Charcot-Marie-Tooth (CMT) & Sensory Neuropathies Gene Panel is a comprehensive genetic test that analyzes multiple genes associated with inherited peripheral neuropathies. It helps identify the genetic cause of muscle weakness, sensory loss, gait abnormalities, and progressive nerve damage, enabling accurate diagnosis, prognosis, and family counseling.

Who should consider this test?

• Individuals with progressive muscle weakness or foot deformities
• Patients with numbness, tingling, or sensory loss in hands and feet
• Children or adults with unexplained inherited neuropathy
• Individuals with a family history of Charcot-Marie-Tooth disease or hereditary sensory neuropathies
• Patients with abnormal nerve conduction study (NCS) findings suggestive of inherited neuropathy

What does the panel detect?

The panel evaluates multiple genes associated with:

• Charcot-Marie-Tooth disease (CMT)
• Hereditary Motor and Sensory Neuropathies (HMSN)
• Hereditary Sensory and Autonomic Neuropathies (HSAN)
• Distal hereditary motor neuropathies
• Axonal and demyelinating peripheral neuropathies

Key Benefits

• Comprehensive analysis of clinically relevant neuropathy genes
• Early and accurate genetic diagnosis
• Supports personalized clinical management
• Helps assess disease progression and prognosis
• Enables family screening and genetic counseling
• Assists reproductive and prenatal planning when indicated

Sample Required

• Peripheral Blood (EDTA)

Method

• Next-Generation Sequencing (NGS)
• Bioinformatics analysis
• Variant interpretation according to international guidelines
• Confirmation of significant variants, if required

When is this test recommended?

• Progressive weakness of legs or hands
• High foot arches (pes cavus) or hammer toes
• Difficulty walking or frequent ankle sprains
• Reduced or absent tendon reflexes
• Chronic peripheral neuropathy of unknown cause
• Positive family history of inherited neuropathy

Why choose this test?

Early genetic confirmation helps establish the correct diagnosis, avoids unnecessary investigations, guides clinical management, and provides valuable information for family members through genetic counseling.

Advanced BioCare Laboratories – Delivering advanced genetic diagnostics for precise neurological care.