TGFB1 Gene Camurati-Engelmann Disease NGS Genetic DNA Test
Introduction
The TGFB1 Gene Camurati-Engelmann Disease NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the TGFB1 gene associated with Camurati-Engelmann disease, a rare genetic disorder characterized by skeletal abnormalities and progressive bone pain. Understanding the genetic basis of this condition is essential for effective management and treatment.
What the Test Measures
This test analyzes the TGFB1 gene to detect specific mutations that may lead to Camurati-Engelmann disease. By identifying these genetic changes, healthcare providers can better understand the disease’s etiology and guide treatment options.
Who Should Consider This Test
Individuals who should consider the TGFB1 Gene Camurati-Engelmann Disease NGS Genetic DNA Test include:
- Patients with a family history of Camurati-Engelmann disease.
- Individuals exhibiting symptoms such as bone pain, abnormal skeletal development, or other related dysmorphologies.
- Those with risk factors for genetic disorders, particularly in pediatrics.
Benefits of Taking the Test
- Early diagnosis and management of Camurati-Engelmann disease.
- Informed decision-making regarding treatment options.
- Genetic counseling for affected family members.
- Peace of mind for patients and families through understanding genetic risks.
Understanding Your Results
Results from the TGFB1 Gene Camurati-Engelmann Disease NGS Genetic DNA Test will be discussed during a follow-up consultation. A genetic counselor will help interpret the findings, providing a clear understanding of what the results mean for you and your family. It is important to discuss any concerns or questions with your healthcare provider.
Test Details and Pricing
Test Name | Regular Price | Discount Price |
---|---|---|
TGFB1 Gene Camurati-Engelmann Disease NGS Genetic DNA Test | 56,000 KSh | 40,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, patients should undergo a genetic counseling session to outline their clinical history and draw a pedigree chart of affected family members.
Book Your Test Today
We have branches across Kenya, including major cities like Nairobi and Mombasa. For convenience, we also offer home sample collection services. Don’t wait—book your TGFB1 Gene Camurati-Engelmann Disease NGS Genetic DNA Test today by calling or WhatsApping us at +254711564616.