AP4M1 Gene SPG50 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The AP4M1 Gene SPG50 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with SPG50, a rare autosomal recessive form of hereditary spastic paraplegia. This advanced next-generation sequencing test provides crucial insights for patients and families affected by progressive neurological symptoms, enabling accurate diagnosis and informed medical decision-making.
What Does the AP4M1 Gene SPG50 Test Measure?
This sophisticated genetic test specifically targets the AP4M1 gene located on chromosome 7q22.1, which encodes the adaptor protein complex 4 subunit mu-1. The test utilizes cutting-edge NGS technology to:
- Identify pathogenic variants in the AP4M1 gene
- Detect single nucleotide variants, insertions, and deletions
- Analyze coding regions and splice sites with 99% accuracy
- Provide comprehensive mutation analysis for SPG50 diagnosis
Who Should Consider AP4M1 Gene SPG50 Testing?
This genetic test is recommended for individuals presenting with symptoms suggestive of hereditary spastic paraplegia, including:
- Progressive lower limb weakness and spasticity
- Delayed motor development in childhood
- Intellectual disability or cognitive impairment
- Speech difficulties and language delays
- Microcephaly (small head circumference)
- Seizures or epilepsy
- Family history of similar neurological symptoms
- Unexplained gait abnormalities and walking difficulties
Key Benefits of AP4M1 Gene SPG50 Testing
Undergoing this comprehensive genetic test provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirm or rule out SPG50 with high accuracy
- Early Intervention: Enable timely treatment and management strategies
- Family Planning: Provide crucial information for genetic counseling
- Personalized Care: Guide targeted therapeutic approaches
- Prognostic Information: Understand disease progression and outcomes
- Research Contribution: Advance scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of pathogenic AP4M1 mutations confirming SPG50 diagnosis
- Negative Result: Suggests absence of detectable AP4M1 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without disease symptoms
All results include detailed interpretation by our board-certified genetic counselors and neurologists, ensuring you receive comprehensive guidance for next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | AP4M1 Gene SPG50 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Family pedigree chart development
- Neurological evaluation when indicated
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. The AP4M1 Gene SPG50 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and treatment planning. Our team of genetic specialists and neurologists is ready to guide you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your AP4M1 Gene SPG50 test. Take control of your neurological health with advanced genetic testing from America’s trusted diagnostic provider.
