PANK2 Gene Pantothenate Kinase-Associated Neurodegeneration NGS Genetic DNA Test
Understanding PANK2 Gene Neurodegeneration Testing
The PANK2 Gene Pantothenate Kinase-Associated Neurodegeneration NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the PANK2 gene, which plays a critical role in coenzyme A biosynthesis and mitochondrial function. When this gene malfunctions, it leads to pantothenate kinase-associated neurodegeneration (PKAN), a rare but devastating neurological disorder that typically manifests in childhood or early adulthood.
Our comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire coding region of the PANK2 gene with exceptional accuracy. This approach allows for the detection of both common and rare mutations that might be missed by conventional genetic testing methods. The importance of early and accurate diagnosis cannot be overstated, as it enables timely intervention and appropriate management strategies for affected individuals and their families.
What Does the PANK2 Gene Test Measure?
This sophisticated genetic test specifically identifies:
- Pathogenic variants in the PANK2 gene associated with neurodegeneration
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertion and deletion mutations disrupting gene expression
- Copy number variations impacting gene dosage
- Novel mutations previously unreported in medical literature
The test employs comprehensive sequencing of all exons and flanking intronic regions of the PANK2 gene, ensuring no potential mutation goes undetected. Our advanced bioinformatics pipeline analyzes sequencing data to identify variants of uncertain significance and provides detailed interpretation by board-certified genetic specialists.
Who Should Consider PANK2 Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Progressive dystonia affecting multiple body regions
- Parkinsonian symptoms including rigidity and bradykinesia
- Cognitive decline or developmental regression
- Speech difficulties and dysarthria
- Eye movement abnormalities and visual impairment
- Family history of similar neurological symptoms
- Early-onset movement disorders (typically before age 30)
- Iron accumulation in the brain detected by MRI (eye-of-the-tiger sign)
At-Risk Populations
- Children with unexplained neurological deterioration
- Adults with progressive movement disorders
- Individuals with family history of PKAN or similar conditions
- Patients with atypical parkinsonism or dystonia
- Those seeking genetic counseling for family planning
Benefits of PANK2 Genetic DNA Testing
Undergoing PANK2 genetic testing provides numerous advantages for patients and healthcare providers:
Diagnostic Clarity
Provides definitive diagnosis for individuals with unexplained neurological symptoms, eliminating the diagnostic odyssey that many patients with rare diseases experience. Accurate genetic diagnosis enables targeted treatment approaches and appropriate management strategies.
Family Planning Guidance
Identifies carrier status and enables informed reproductive decisions for at-risk family members. Genetic counseling based on test results helps families understand inheritance patterns and recurrence risks.
Personalized Treatment Approaches
Facilitates development of individualized management plans, including potential therapeutic interventions and symptom-specific treatments. Early diagnosis allows for proactive management of neurological symptoms.
Research Contribution
Participation in genetic testing contributes to broader understanding of PKAN and related neurodegenerative disorders, potentially advancing future treatment options.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the PANK2 gene consistent with PKAN diagnosis. Our genetic counselors provide comprehensive explanation of:
- Specific mutation identified and its clinical significance
- Expected disease progression and symptom management
- Available treatment options and supportive care measures
- Family testing recommendations and genetic counseling resources
Negative Result Interpretation
A negative result suggests that no disease-causing mutations were detected in the PANK2 gene. However, this does not completely rule out PKAN in all cases, and further evaluation may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
When a genetic change of unknown clinical significance is identified, our specialists provide detailed guidance on monitoring and potential follow-up testing. Regular updates are provided as new information becomes available in medical literature.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before undergoing PANK2 genetic testing, patients should provide:
- Complete clinical history documenting neurological symptoms and progression
- Participation in genetic counseling session to create detailed family pedigree
- Informed consent understanding test implications and potential outcomes
- Insurance information and necessary physician referrals
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection facilities ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms control your life. The PANK2 Gene Pantothenate Kinase-Associated Neurodegeneration NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. Our team of neurological genetics specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your neurological health.
Early detection through advanced genetic testing can make a significant difference in managing neurological conditions and planning for the future. Trust our expertise in neurological genetics to provide the comprehensive testing and support you deserve.
