PRKAR1A Gene Acrodysostosis Type 1 With or Without Hormone Resistance NGS Genetic DNA Test
Introduction to the PRKAR1A Gene Acrodysostosis Test
The PRKAR1A Gene Acrodysostosis Type 1 With or Without Hormone Resistance NGS Genetic DNA Test is a cutting-edge genetic test that plays a vital role in diagnosing acrodysostosis, a rare genetic disorder characterized by skeletal abnormalities. This test utilizes Next Generation Sequencing (NGS) technology to analyze the PRKAR1A gene, which is crucial for understanding the genetic basis of this condition.
What the Test Measures
This genetic test specifically measures mutations in the PRKAR1A gene that can lead to acrodysostosis. By identifying these mutations, healthcare providers can better understand the condition’s impact on the patient and their family.
Who Should Consider This Test?
Individuals exhibiting symptoms of acrodysostosis, such as skeletal dysmorphism, short stature, and hormone resistance, should consider this test. Additionally, those with a family history of the condition or related symptoms may benefit from genetic testing to clarify their risk.
Benefits of Taking the Test
- Early diagnosis of acrodysostosis, allowing for timely intervention.
- Informed family planning and understanding of hereditary risks.
- Guidance for healthcare providers in managing symptoms and treatment options.
- Access to genetic counseling and support services.
Understanding Your Results
Results from the PRKAR1A Gene Acrodysostosis test will provide insights into whether a mutation is present. A positive result indicates a genetic predisposition to the disorder, while a negative result suggests that the individual does not carry the known mutations associated with acrodysostosis. It is crucial to discuss results with a genetic counselor for comprehensive understanding and next steps.
Test Information and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
PRKAR1A Gene Acrodysostosis Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your PRKAR1A Gene Acrodysostosis Type 1 With or Without Hormone Resistance NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with your genetic testing needs.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: A clinical history of the patient is required, along with a genetic counseling session to create a pedigree chart of family members affected by PRKAR1A Gene Acrodysostosis.
Specialty: Pediatrics | Department: Genetics | Method: NGS Technology | Disease Type: Dysmorphology