COL10A1 Gene Metaphyseal Chondrodysplasia Schmid Type NGS Genetic DNA Test
Introduction
The COL10A1 Gene Metaphyseal Chondrodysplasia Schmid Type NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the COL10A1 gene, which are associated with metaphyseal chondrodysplasia, a rare genetic disorder. This test is vital for individuals who may be at risk of inheriting this condition, allowing for early diagnosis and informed medical decisions.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to analyze the COL10A1 gene. It detects specific mutations that may lead to metaphyseal chondrodysplasia, providing critical information about an individual’s genetic predisposition to this disorder.
Who Should Consider This Test
Individuals with a family history of metaphyseal chondrodysplasia or those experiencing symptoms such as skeletal abnormalities, short stature, or joint pain should consider this test. Additionally, those with a known history of COL10A1 mutations in the family may benefit from this genetic assessment.
Benefits of Taking the Test
- Early diagnosis of potential genetic disorders.
- Informed decision-making regarding treatment options.
- Understanding family risk factors and inheritance patterns.
- Access to genetic counseling for better management of health.
Understanding Your Results
Results from the COL10A1 Gene Metaphyseal Chondrodysplasia Schmid Type NGS Genetic DNA Test will be provided with a comprehensive report. A positive result indicates the presence of a mutation, which may necessitate further medical evaluation and management. A negative result can provide reassurance regarding the absence of the disorder.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test
To book the COL10A1 Gene Metaphyseal Chondrodysplasia Schmid Type NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and to help you schedule your appointment.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: A clinical history is required, and a genetic counseling session is recommended to draw a pedigree chart of family members affected by the COL10A1 gene.
Specialty: Dermatology, Department: Genetics, Method: NGS Technology, Disease Type: Osteology Dermatology Immunology Disorders
