DRPLA Dentatorubral-Pallidoluysian Atrophy Gene Analysis Test
Understanding DRPLA Genetic Testing
The DRPLA Dentatorubral-Pallidoluysian Atrophy Gene Analysis Test represents a breakthrough in neurological genetic diagnostics. This specialized molecular examination focuses on detecting abnormal expansions in the ATN1 gene, which are directly responsible for causing Dentatorubral-Pallidoluysian Atrophy – a rare, progressive neurodegenerative condition affecting multiple brain regions including the dentate nucleus, red nucleus, globus pallidus, and subthalamic nucleus.
What Does the DRPLA Test Measure?
This advanced genetic analysis specifically targets the CAG trinucleotide repeat expansion within the ATN1 (Atrophin-1) gene located on chromosome 12. The test utilizes sophisticated PCR fragment analysis technology to precisely quantify the number of CAG repeats:
- Normal range: 6-35 CAG repeats
- Intermediate range: 36-47 CAG repeats
- Pathogenic range: 48+ CAG repeats
The expansion of these repeats leads to the production of abnormal atrophin-1 protein, which accumulates in neurons and causes progressive degeneration of specific brain regions.
Who Should Consider DRPLA Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Progressive ataxia and coordination difficulties
- Involuntary movements including chorea and myoclonus
- Cognitive decline and dementia symptoms
- Seizures and epilepsy of unknown origin
- Behavioral changes and psychiatric symptoms
- Family history of similar neurological conditions
- Unexplained progressive neurological deterioration
Comprehensive Benefits of DRPLA Testing
Undergoing DRPLA genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out DRPLA with high precision
- Early Intervention: Enables proactive management of symptoms
- Genetic Counseling: Provides essential information for family planning
- Treatment Guidance: Helps neurologists develop targeted care plans
- Prognostic Information: Offers insights into disease progression patterns
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Interpretation Guidelines
Your DRPLA gene analysis results will fall into one of several categories:
- Normal Result: CAG repeats within normal range (6-35) – indicates low risk for DRPLA
- Intermediate Range: 36-47 repeats – may require monitoring and genetic counseling
- Pathogenic Expansion: 48+ repeats – confirms DRPLA diagnosis
- Anticipation Pattern: Successive generations may show earlier onset and increased severity
All results should be discussed with a qualified neurologist or genetic counselor who can provide personalized interpretation and guidance based on your specific clinical presentation and family history.
Test Pricing and Availability
| Test Component | Price Type | Amount (USD) |
|---|---|---|
| DRPLA Gene Analysis | Discount Price | $188 |
| DRPLA Gene Analysis | Regular Price | $250 |
Nationwide Testing Accessibility
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures that advanced genetic testing is accessible to patients nationwide.
Schedule Your DRPLA Analysis Today
Take the first step toward understanding your neurological health. Our experienced team is ready to assist you with the testing process, from sample collection to result interpretation. Contact us today to schedule your DRPLA Dentatorubral-Pallidoluysian Atrophy Gene Analysis Test and gain valuable insights into your genetic health.
Call or WhatsApp: +1(267) 388-9828
Our genetic specialists are available to answer your questions and help you book your test appointment at a location convenient for you.
