PRKAR1A Gene Acrodysostosis Type 1 with or without Hormone Resistance NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Skeletal and Endocrine Disorders
The PRKAR1A Gene Acrodysostosis Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with acrodysostosis type 1, a rare genetic condition affecting bone development and endocrine function. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide precise, reliable results that can significantly impact patient care and family planning decisions.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the PRKAR1A gene, which encodes the regulatory subunit type 1A of protein kinase A. Mutations in this critical gene disrupt normal cAMP signaling pathways, leading to the characteristic features of acrodysostosis type 1. The test detects:
- Point mutations, insertions, and deletions in the PRKAR1A gene
- Genetic variants associated with skeletal dysplasia and hormone resistance
- Inheritance patterns that may affect family members
- Specific mutation types that correlate with disease severity
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical findings:
- Children with unexplained short stature and developmental delays
- Individuals with distinctive facial features including nasal hypoplasia and midface retrusion
- Patients with brachydactyly (shortened fingers and toes) and other skeletal abnormalities
- Those experiencing resistance to multiple hormones including PTH, TSH, or GHRH
- Individuals with intellectual disability of unknown etiology
- Patients with family history of similar skeletal or endocrine disorders
Clinical Benefits of Genetic Testing
Undergoing the PRKAR1A genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out acrodysostosis type 1 with high precision
- Personalized Treatment: Enables targeted management strategies based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of appropriate therapies and monitoring
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic mutation in the PRKAR1A gene, confirming the diagnosis of acrodysostosis type 1
- Negative Result: Suggests that PRKAR1A mutations are not responsible for the clinical presentation, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires additional investigation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms, important for family planning
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| PRKAR1A Gene Acrodysostosis Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| PRKAR1A Gene Acrodysostosis Type 1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Early genetic diagnosis can make a significant difference in managing acrodysostosis type 1 and related conditions.
Book your PRKAR1A genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with confidence and precision.
Note: This test requires a genetic counseling session prior to testing to document clinical history and create a comprehensive family pedigree chart. Turnaround time for results is typically 3-4 weeks from sample receipt. Acceptable sample types include blood, extracted DNA, or one drop of blood on FTA card.
