BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies NGS Genetic DNA Test
Introduction
The BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies NGS Genetic DNA Test is a cutting-edge genetic test that plays a crucial role in diagnosing specific genetic disorders associated with skeletal dysmorphology. This test utilizes Next Generation Sequencing (NGS) technology to detect mutations in the BMPR1B gene, which are linked to a range of physical anomalies, including those affecting the limbs and genitalia.
What the Test Measures
This genetic test specifically measures the presence of mutations in the BMPR1B gene. These mutations can lead to acromesomelic dysplasia, a condition characterized by short stature and skeletal abnormalities, as well as potential genital anomalies.
Who Should Consider This Test
This test is recommended for individuals exhibiting symptoms such as:
- Short stature
- Abnormal limb proportions
- Genital anomalies
- A family history of skeletal dysmorphology
Patients with a clinical history suggesting possible BMPR1B gene involvement should consult with a genetic counselor to discuss the appropriateness of this test.
Benefits of Taking the Test
Taking the BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies NGS Genetic DNA Test offers several benefits:
- Early diagnosis of genetic disorders
- Informed decision-making for treatment options
- Understanding the risk of passing on genetic conditions to offspring
- Access to targeted therapies and management plans
Understanding Your Results
Results from the BMPR1B Gene test will indicate whether any mutations were detected. A positive result may confirm a diagnosis of a genetic disorder, while a negative result can provide reassurance. It is essential to discuss your results with a healthcare professional to understand their implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Branches and Booking
We have branches across all major cities in Kenya, ensuring easy access to our services. For your convenience, we also offer home sample collection services. To book the BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Prior to taking the test, patients should undergo a genetic counseling session to gather a clinical history and draw a pedigree chart of family members affected by BMPR1B Gene Chondrodysplasia. This helps in understanding the genetic implications and guiding the testing process.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood or extracted DNA or one drop of blood on an FTA card.
