ENTPD1 Gene SPG64 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The ENTPD1 Gene SPG64 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying hereditary spastic paraplegia type 64 (SPG64), a rare neurological disorder characterized by progressive lower limb spasticity and weakness. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive evaluation of the ENTPD1 gene, which encodes ectonucleoside triphosphate diphosphohydrolase 1—an enzyme critical for purinergic signaling in the nervous system.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the ENTPD1 gene to detect pathogenic variants associated with SPG64. The test examines:
- Single nucleotide variants (SNVs) throughout the ENTPD1 gene coding regions
- Small insertions and deletions (indels) that may disrupt gene function
- Copy number variations (CNVs) affecting gene dosage
- Splice site mutations that could impact mRNA processing
The ENTPD1 gene plays a vital role in hydrolyzing extracellular ATP and ADP, regulating purinergic signaling pathways essential for proper neuronal function and axonal maintenance. Mutations in this gene disrupt normal purinergic signaling, leading to the characteristic symptoms of SPG64.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of hereditary spastic paraplegia, including:
- Progressive lower limb spasticity and weakness
- Difficulty walking or changes in gait pattern
- Muscle stiffness and hyperreflexia in the legs
- Family history of similar neurological symptoms
- Early-onset spastic paraparesis
- Urinary urgency or other autonomic symptoms
- Children with delayed motor milestones and spasticity
Clinical Benefits of ENTPD1 Genetic Testing
Undergoing ENTPD1 gene testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out SPG64 with high accuracy
- Personalized Treatment: Enables targeted therapeutic approaches
- Genetic Counseling: Provides essential information for family planning
- Prognostic Information: Helps predict disease progression and severity
- Differential Diagnosis: Distinguishes SPG64 from other HSP subtypes
- Research Participation: Opens opportunities for clinical trials
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic ENTPD1 mutation consistent with SPG64 diagnosis
- Negative Result: Suggests that ENTPD1 mutations are not the cause of symptoms, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the mutation to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Book Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our team of genetic specialists and neurologists is ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your appointment or speak with a genetic counselor.
Call or WhatsApp: +1(267) 388-9828
Early genetic testing can provide crucial information for managing hereditary spastic paraplegia and improving quality of life. Don’t wait—secure your comprehensive genetic evaluation today and gain the clarity needed for informed healthcare decisions.
