TGFB1 Gene CamuratiEngelmann Disease NGS Genetic DNA Test
Introduction
The TGFB1 Gene CamuratiEngelmann Disease NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the TGFB1 gene, which are responsible for Camurati-Engelmann disease. This rare genetic disorder primarily affects the bones and is characterized by progressive bone pain and deformities. Understanding whether you carry this mutation can provide critical insights into your health and guide future medical decisions.
What the Test Measures
This genetic test employs Next-Generation Sequencing (NGS) technology to analyze the TGFB1 gene, detecting any pathogenic variants that may indicate a predisposition to Camurati-Engelmann disease. By identifying these mutations, healthcare providers can offer tailored management strategies.
Who Should Consider This Test?
Individuals experiencing symptoms such as:
- Chronic bone pain
- Bone deformities
- Unexplained fractures
- Family history of Camurati-Engelmann disease
should consider this test. Additionally, those with a clinical history suggestive of dysmorphology may benefit from genetic counseling and testing.
Benefits of Taking the Test
- Early diagnosis and intervention for Camurati-Engelmann disease.
- Informed decision-making regarding treatment options.
- Family planning and risk assessment for future generations.
- Access to specialized care tailored to genetic findings.
Understanding Your Results
Results from the TGFB1 Gene CamuratiEngelmann Disease NGS Genetic DNA Test will indicate whether or not mutations are present in the TGFB1 gene. A genetic counselor will help interpret these results, discussing their implications for your health and potential treatment pathways.
| Test Name | Price (NGN) |
|---|---|
| TGFB1 Gene CamuratiEngelmann Disease NGS Genetic DNA Test | Discount Price: 400,000 NGN |
| Regular Price: 560,000 NGN |
Book the Test
Don’t wait to understand your genetic health. Book the TGFB1 Gene CamuratiEngelmann Disease NGS Genetic DNA Test today! For more information or to schedule your test, call or WhatsApp us at +2348077798758.
Pre-Test Instructions
Prior to testing, a clinical history of the patient is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected by TGFB1 Gene Camurati-Engelmann disease.
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
