COMP Gene Pseudoachondroplasia NGS Genetic DNA Test
Introduction to the Test
The COMP Gene Pseudoachondroplasia NGS Genetic DNA Test is a specialized diagnostic tool designed to identify genetic mutations associated with pseudoachondroplasia. This condition affects the development of cartilage and bone, leading to disproportionate short stature and other skeletal abnormalities. Understanding the genetic underpinnings of this disorder is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to analyze the COMP gene, which plays a vital role in cartilage formation. By detecting mutations in this gene, healthcare providers can confirm a diagnosis of pseudoachondroplasia and differentiate it from other skeletal dysplasias.
Who Should Consider This Test?
Individuals who should consider the COMP Gene Pseudoachondroplasia NGS Genetic DNA Test include:
- People exhibiting symptoms such as disproportionate short stature, joint pain, or skeletal deformities.
- Individuals with a family history of pseudoachondroplasia or related disorders.
- Patients referred by a specialist, such as a dermatologist or geneticist, for further evaluation.
Benefits of Taking the Test
Taking the COMP Gene Pseudoachondroplasia NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of pseudoachondroplasia, enabling targeted treatment options.
- Informed reproductive choices for families with a history of the disorder.
- Guidance for managing symptoms and improving quality of life.
Understanding Your Results
Results from the COMP Gene Pseudoachondroplasia NGS Genetic DNA Test will be provided in a detailed report. This report will outline any detected mutations and their implications. It is essential to discuss these results with a healthcare provider for proper interpretation and to understand the next steps in management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COMP Gene Pseudoachondroplasia NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
We have branches across Kenya, and we also offer home sample collection services for your convenience. To book the COMP Gene Pseudoachondroplasia NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Turnaround time for results is approximately 3 to 4 weeks, and the sample type required is either blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a genetic counseling session is recommended to gather the clinical history of the patient and to create a pedigree chart of affected family members.
Take the first step towards understanding your genetic health today!
