COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test
Introduction to the COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test
The COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test is a state-of-the-art diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to analyze the COL2A1 gene. This gene is critical in the formation of collagen, a vital protein that provides structure to various tissues in the body. Understanding mutations in this gene can help diagnose conditions related to dysmorphology, which encompasses a range of disorders characterized by abnormal physical development.
What the Test Measures
This genetic test specifically measures the presence of mutations in the COL2A1 gene. It identifies variations that may lead to disorders affecting the skeletal system and other connective tissues, aiding in the diagnosis of conditions such as Stickler syndrome and other related dysmorphic syndromes.
Who Should Consider This Test?
Individuals who may benefit from the COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test include:
- Patients exhibiting physical abnormalities or symptoms related to skeletal dysplasia.
- Individuals with a family history of genetic disorders associated with the COL2A1 gene.
- Patients referred for genetic counseling due to unexplained developmental issues.
Benefits of Taking the Test
The COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test provides several benefits:
- Accurate identification of genetic mutations to facilitate early diagnosis.
- Informed decision-making regarding treatment and management options.
- Guidance for family planning and understanding inheritance patterns.
- Enhanced understanding of the underlying causes of symptoms.
Understanding Your Results
Results from the COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test will be provided in a detailed report. A genetic counselor will assist in interpreting the results, helping you understand the implications for health and family members. It is essential to discuss these results with a healthcare provider to determine the best course of action.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To schedule your COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test, contact us today! Our dedicated team is ready to assist you with the booking process. Call or WhatsApp us at +2348077798758 for more information or to set up an appointment.
Additional Information
- 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 of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by COL2A1 gene mutations.
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
