LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the LAMA1 gene, which encodes laminin alpha-1 chain. This protein plays a crucial role in brain development, particularly in the formation and maintenance of cerebellar structures. When mutations occur in the LAMA1 gene, they can lead to Poretti-Boltshauser syndrome, a rare autosomal recessive condition characterized by cerebellar hypoplasia and distinctive neurological features.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the LAMA1 gene to identify pathogenic variants responsible for Poretti-Boltshauser syndrome. The test examines:
- Point mutations and small insertions/deletions throughout the LAMA1 gene
- Copy number variations affecting gene function
- Novel variants with potential clinical significance
- Inheritance patterns through family genetic analysis
Using next-generation sequencing technology, we achieve exceptional accuracy in detecting even rare genetic variants that might be missed by conventional testing methods.
Who Should Consider LAMA1 Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Developmental delay and intellectual disability of unknown origin
- Cerebellar hypoplasia detected on brain imaging
- Ataxia and coordination difficulties
- Distinctive facial features including prominent forehead and hypertelorism
- Family history of similar neurological conditions
- Unexplained infantile-onset neurological symptoms
- Consanguineous parental relationships
Significant Benefits of LAMA1 Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing LAMA1 genetic testing provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out Poretti-Boltshauser syndrome with high precision
- Treatment Guidance: Informs appropriate management strategies and therapeutic interventions
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Genetic Counseling: Enables targeted counseling for affected families
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Interpreting Genetic Findings
Your test results will fall into one of several categories, each with specific implications:
- Positive Result: Identifies pathogenic variants in the LAMA1 gene, confirming Poretti-Boltshauser syndrome diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by comprehensive interpretation from our board-certified genetic specialists and genetic counselors.
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test | $700 USD | $500 USD |
Additional Test Information
- 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: Pediatric Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Appropriate sample collection following our guidelines
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities 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 delay proper diagnosis and care. Our LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand your results in the context of your unique health situation.
Take control of your genetic health with the most advanced diagnostic technology available. Book your test now and move forward with confidence.
