B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures NGS Genetic DNA Test
The B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a crucial role in identifying genetic disorders related to bone and joint health. This test utilizes Next-Generation Sequencing (NGS) technology, which allows for comprehensive analysis of the B3GALT6 gene, known to be associated with spondyloepimetaphyseal dysplasia.
What the Test Measures
This test specifically detects mutations in the B3GALT6 gene, which can lead to various skeletal abnormalities and joint laxity. By identifying these genetic changes, healthcare providers can better understand the underlying causes of the patient’s symptoms.
Who Should Consider This Test
- Individuals exhibiting symptoms of joint laxity or skeletal abnormalities.
- Patients with a family history of spondyloepimetaphyseal dysplasia.
- Those experiencing unexplained fractures or joint issues.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions.
- Informed decision-making regarding treatment options.
- Opportunity for genetic counseling and family planning.
Understanding Your Results
Results from the B3GALT6 Gene Spondyloepimetaphyseal Dysplasia Test will provide insights into the presence of genetic mutations. A healthcare provider will guide you through the interpretation of these results, helping you understand their implications for your health and potential treatment pathways.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking Your Test
To book the B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.
- Specialty: Dermatology
- Department: Genetics
- Method: NGS Technology
- Disease Type: Osteology Dermatology Immunology Disorders
