PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 NGS Genetic DNA Test
Comprehensive Introduction to PPT1 Gene Testing
The PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This specialized test focuses on identifying mutations in the PPT1 (palmitoyl-protein thioesterase 1) gene, which is responsible for neuronal ceroid lipofuscinosis type 1 (CLN1), also known as infantile Batten disease. As a progressive neurodegenerative condition, CLN1 affects the central nervous system and leads to severe neurological deterioration. Early and accurate genetic diagnosis through this advanced NGS technology is crucial for affected families seeking answers and appropriate medical management.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the PPT1 gene located on chromosome 1p34.2, analyzing the entire coding region and adjacent intronic boundaries to identify pathogenic variants. The test detects:
- Missense, nonsense, and frameshift mutations in the PPT1 gene
- Splice site variants affecting protein function
- Small insertions and deletions impacting enzyme activity
- Compound heterozygous mutations in affected individuals
- Carrier status in asymptomatic family members
The PPT1 enzyme deficiency leads to abnormal accumulation of lipopigments in neuronal cells, causing progressive neurodegeneration. Our test provides 99.9% accuracy in detecting known and novel variants associated with CLN1 disease.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of neuronal ceroid lipofuscinosis type 1, including:
- Infants and children experiencing developmental regression
- Progressive vision loss beginning in early childhood
- Seizures that are difficult to control with standard medications
- Motor function deterioration and loss of coordination
- Cognitive decline and speech difficulties
- Microcephaly (abnormally small head size)
- Family history of CLN1 disease or unexplained childhood neurodegeneration
- Couples with a family history of Batten disease planning pregnancy
Significant Benefits of PPT1 Genetic Testing
Undergoing PPT1 gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out CLN1 disease with high precision
- Early Intervention: Enables timely implementation of supportive care strategies
- Family Planning: Provides crucial information for reproductive decision-making
- Carrier Detection: Identifies asymptomatic carriers within families
- Clinical Trial Eligibility: Opens access to emerging therapies and research studies
- Prognostic Information: Helps anticipate disease progression and plan care
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your PPT1 gene test results:
- Positive Result: Indicates pathogenic mutations in both PPT1 gene copies, confirming CLN1 diagnosis
- Carrier Status: Identifies individuals with one mutated PPT1 gene copy who are typically asymptomatic
- Negative Result: No pathogenic variants detected, significantly reducing CLN1 likelihood
- Variant of Uncertain Significance: Requires additional family studies for interpretation
All positive results include detailed explanations of the specific mutations found and their clinical implications. Our genetic counselors provide personalized guidance on next steps, management options, and family testing recommendations.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Metabolic Genetics
- Department: Genetics
Pre-Test Requirements
Before scheduling your PPT1 genetic test, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of symptoms and previous diagnostic evaluations
- Informed consent for genetic testing
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States, with convenient locations in major cities 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.
Take Action Today
Don’t let diagnostic uncertainty delay proper care. Our specialized genetic testing provides the answers families need to navigate CLN1 disease effectively. With our discounted rate of $500 USD, advanced NGS technology, and comprehensive genetic counseling support, you can make informed decisions about your health and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 NGS Genetic DNA Test and take the first step toward genetic clarity and personalized care management.
