MTPAP Gene Spastic Ataxia Type 4 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The MTPAP Gene Spastic Ataxia Type 4 Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the MTPAP (mitochondrial poly(A) polymerase) gene, which plays a crucial role in mitochondrial RNA processing and neurological function. When mutations occur in this gene, they can lead to spastic ataxia type 4, a progressive neurological condition characterized by impaired coordination and muscle control.
What This Test Measures and Detects
Our comprehensive NGS-based test analyzes the complete coding region of the MTPAP gene to identify:
- Autosomal recessive mutations causing spastic ataxia type 4
- Single nucleotide variants (SNVs) and small insertions/deletions
- Pathogenic variants affecting mitochondrial RNA processing
- Genetic markers associated with progressive neurological deterioration
- Inheritance patterns for family planning considerations
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive difficulty with coordination and balance
- Muscle stiffness and spasticity in limbs
- Unexplained gait abnormalities or walking difficulties
- Family history of similar neurological symptoms
- Early-onset movement disorders without clear diagnosis
- Children showing developmental delays in motor skills
- Individuals with consanguineous parents or family history
Key Benefits of MTPAP Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out spastic ataxia type 4 with high precision
- Early Intervention: Enables proactive management strategies before significant neurological damage occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps understand disease progression and expected clinical course
- Research Contribution: Advances scientific understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic MTPAP mutations confirming spastic ataxia type 4 diagnosis
- Negative Result: Suggests absence of known MTPAP mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further study
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| MTPAP Gene Spastic Ataxia Type 4 NGS Genetic DNA Test – Discount Price | $500 |
| MTPAP Gene Spastic Ataxia Type 4 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have convenient testing locations 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 more. Our state-of-the-art facilities ensure consistent, high-quality genetic testing services nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our MTPAP genetic test provides the clarity needed for proper diagnosis and management. With results available in 3-4 weeks and comprehensive pre-test genetic counseling included, you’ll receive the expert guidance necessary for informed healthcare decisions.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Take the first step toward understanding your neurological health with confidence and precision.
