PMP22 Gene Neuropathy with Liability to Pressure Palsies (HNPP) NGS Genetic DNA Test

Understanding Hereditary Neuropathy with Liability to Pressure Palsies

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is an inherited neurological disorder characterized by recurrent, painless peripheral nerve palsies that typically occur after minor compression or trauma. This condition results from a deletion in the PMP22 (Peripheral Myelin Protein 22) gene located on chromosome 17, which plays a crucial role in maintaining the structural integrity of the myelin sheath that protects peripheral nerves.

What Does This Test Measure?

The PMP22 Gene HNPP NGS Genetic DNA Test utilizes advanced Next-Generation Sequencing technology to detect specific genetic mutations and deletions in the PMP22 gene. This comprehensive analysis identifies:

• PMP22 gene deletions responsible for HNPP
• Point mutations and small insertions/deletions
• Gene duplications associated with related conditions
• Copy number variations affecting nerve function

Who Should Consider This Test?

This genetic test is particularly important for individuals experiencing:

• Recurrent episodes of numbness or tingling in limbs
• Temporary muscle weakness following minor pressure
• Foot drop or wrist drop without apparent cause
• Family history of peripheral neuropathy
• Unexplained nerve compression symptoms
• Diagnostic uncertainty regarding neurological symptoms

Clinical Symptoms and Indications

Patients with HNPP typically experience pressure palsies that manifest as:

• Transient numbness in affected areas
• Muscle weakness lasting hours to months
• Sensory disturbances in nerve distribution patterns
• Reduced reflexes in affected limbs
• Asymmetric neurological symptoms

Benefits of PMP22 Gene Testing

Early genetic diagnosis through this test provides numerous advantages:

• Accurate Diagnosis: Confirms HNPP and differentiates from other neuropathies
• Preventive Management: Helps avoid activities that trigger pressure palsies
• Family Planning: Provides genetic counseling information
• Treatment Guidance: Informs appropriate therapeutic approaches
• Prognostic Information: Helps understand disease progression patterns

Test Methodology and Technology

Our test employs state-of-the-art Next-Generation Sequencing (NGS) technology, offering:

• High-resolution genetic analysis
• Comprehensive coverage of PMP22 gene regions
• Accurate detection of deletions and mutations
• Reliable results with clinical validation

Understanding Your Test Results

Your genetic test results will fall into one of these categories:

• Positive for PMP22 Deletion: Confirms HNPP diagnosis and indicates inherited risk
• Negative Result: Rules out HNPP caused by PMP22 deletions
• Variant of Uncertain Significance: Requires further clinical correlation
• Other PMP22 Mutations: May indicate related neurological conditions

Clinical Implications and Next Steps

Based on your results, our genetic counselors will provide:

• Detailed explanation of genetic findings
• Personalized management recommendations
• Family testing guidance
• Referral to appropriate specialists
• Long-term monitoring strategies

Test Pricing and Information

Pre-Test Requirements

Before testing, we recommend:

• Comprehensive clinical history documentation
• Genetic counseling session
• Family pedigree chart development
• Discussion of testing implications and limitations

Nationwide Testing Availability

We have testing facilities across major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services throughout the United States.

Take Control of Your Neurological Health

Early detection of HNPP through PMP22 gene testing can significantly improve quality of life by preventing recurrent nerve damage and guiding appropriate management strategies. Our comprehensive genetic analysis provides the clarity needed for informed healthcare decisions.