LARP7 Gene Alazami Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Alazami Syndrome
The LARP7 Gene Alazami Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the LARP7 gene, which are responsible for Alazami syndrome. This rare genetic disorder falls under the category of dysmorphology and primarily affects pediatric patients, making early and accurate diagnosis essential for proper medical management and intervention strategies.
What is Alazami Syndrome?
Alazami syndrome is an autosomal recessive genetic condition caused by mutations in the LARP7 gene. This gene plays a critical role in RNA metabolism and transcriptional regulation. When mutations occur, they disrupt normal cellular processes, leading to the characteristic features of the syndrome including intellectual disability, growth retardation, and distinctive facial characteristics.
What the Test Measures and Detects
Our advanced NGS (Next Generation Sequencing) technology provides comprehensive analysis of the LARP7 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the LARP7 gene
- Pathogenic variants associated with Alazami syndrome
- Novel mutations that may not be documented in existing databases
Advanced NGS Technology
Utilizing state-of-the-art Next Generation Sequencing, our test offers unparalleled accuracy and coverage of the LARP7 gene. This technology enables simultaneous analysis of multiple genetic regions, providing comprehensive mutation detection that traditional methods might miss.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or circumstances:
- Children with unexplained intellectual disability or developmental delays
- Individuals with distinctive facial features including prominent forehead, deep-set eyes, and thin upper lip
- Patients with growth retardation and microcephaly
- Families with history of consanguinity and similar symptoms
- Siblings of diagnosed individuals for carrier testing
- Patients with suspected genetic syndromes involving dysmorphic features
Clinical Indications
Healthcare providers should consider ordering this test when patients present with multiple features suggestive of Alazami syndrome, particularly when other common genetic causes have been ruled out. The test is especially valuable for confirming clinical suspicions and providing definitive genetic diagnosis.
Benefits of Taking the LARP7 Gene Test
- Definitive Diagnosis: Provides conclusive genetic confirmation of Alazami syndrome
- Family Planning: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely implementation of appropriate therapies and educational support
- Medical Management: Guides healthcare providers in developing targeted treatment plans
- Genetic Counseling: Supports families in understanding inheritance patterns and recurrence risks
- Research Contribution: Helps expand knowledge about rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
Positive Result
A positive result indicates the presence of pathogenic mutations in the LARP7 gene, confirming the diagnosis of Alazami syndrome. This information enables:
- Development of personalized medical care plans
- Implementation of appropriate educational interventions
- Family member testing and genetic counseling
- Connection with support groups and resources
Negative Result
A negative result suggests that no pathogenic mutations were detected in the LARP7 gene. However, this does not completely rule out genetic causes, and further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, genetic changes of unknown clinical significance may be identified. Our genetic counselors will provide guidance on interpretation and potential follow-up testing.
Test Pricing and Information
| 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 |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and the Midwest region
- Houston and Texas metropolitan areas
- Phoenix and Arizona communities
- Philadelphia and the Northeast corridor
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized LARP7 Gene Alazami Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your genetic health.
Early diagnosis through genetic testing can make a significant difference in managing Alazami syndrome and improving quality of life. Take control of your genetic health journey with our expert team and advanced testing capabilities.
