GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test
Introduction
The GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test is a crucial diagnostic tool for identifying oculodentodigital dysplasia (ODDD), a genetic disorder that affects the development of the eyes, teeth, and digits. This test uses Next-Generation Sequencing (NGS) technology to analyze the GJA1 gene, which is known to be associated with this condition. Understanding your genetic predisposition can help in making informed medical decisions and provide insights into potential treatment options.
What the Test Measures
This genetic test specifically detects mutations in the GJA1 gene that are responsible for oculodentodigital dysplasia. By analyzing the genetic material, the test can confirm the presence of these mutations, allowing for a definitive diagnosis of the condition.
Who Should Consider This Test?
This test is recommended for individuals who exhibit symptoms of oculodentodigital dysplasia, which may include:
- Abnormalities in the structure of the eyes
- Dental anomalies such as missing or malformed teeth
- Digit abnormalities, including syndactyly or polydactyly
Additionally, individuals with a family history of the condition or those at risk due to genetic predisposition should also consider this test.
Benefits of Taking the Test
- Provides a definitive diagnosis of oculodentodigital dysplasia.
- Helps in understanding the genetic basis of the condition.
- Facilitates informed medical decisions regarding treatment and management.
- Allows for genetic counseling and family planning.
Understanding Your Results
Once the test is completed, results will be reviewed by a genetic specialist. The interpretation of results will include:
- Identification of any mutations in the GJA1 gene.
- Guidance on the implications of the findings for the patient and family.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To schedule your GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and provide any additional information you may need.
Test 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 GJA1 Gene Oculodentodigital dysplasia.
This test falls under the specialty of Pediatrics and the department of Genetics, focusing on dysmorphology.
