Dync2h1 Gene Short-Rib Thoracic Dysplasia Type 3 With Or Without Polydactyly Ngs Genetic Dna Test
Introduction to the Test
The Dync2h1 Gene Short-Rib Thoracic Dysplasia Type 3 with or without Polydactyly NGS Genetic DNA Test is a specialized genetic test that plays a critical role in diagnosing skeletal dysplasia. This condition is characterized by abnormal bone growth and development, particularly affecting the ribs and thoracic region. Understanding your genetic makeup through this test can lead to better management and treatment options for affected individuals.
What the Test Measures
This test specifically detects mutations in the DYNC2H1 gene, which are associated with Short-Rib Thoracic Dysplasia Type 3. By analyzing the genetic material, the test can identify whether an individual carries mutations that may lead to this condition.
Who Should Consider This Test
Individuals who should consider undergoing the Dync2h1 Gene Short-Rib Thoracic Dysplasia Type 3 test include:
- Individuals with a family history of skeletal dysplasia.
- Patients exhibiting symptoms such as short stature, respiratory issues, or polydactyly.
- Parents with children diagnosed with related skeletal anomalies.
Benefits of Taking the Test
The benefits of the Dync2h1 Gene Short-Rib Thoracic Dysplasia Type 3 NGS Genetic DNA Test include:
- Accurate diagnosis of genetic conditions.
- Guidance for family planning and management of potential health issues.
- Access to tailored treatment options based on genetic findings.
Understanding Your Results
Once the test is completed, results will be interpreted by genetic specialists. It is essential to understand that:
- A positive result indicates the presence of a mutation associated with the condition.
- A negative result does not completely rule out the possibility of the condition.
Test Pricing
Test Name | Price (NGN) |
---|---|
Discount Price | 400,000 NGN |
Regular Price | 560,000 NGN |
Book the Test
To book the Dync2h1 Gene Short-Rib Thoracic Dysplasia Type 3 with or without Polydactyly NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood or extracted DNA, or one drop of blood on an FTA card.
Pre-test instructions include a clinical history of the patient and a genetic counselling session to draw a pedigree chart of family members affected by the DYNC2H1 gene. Early detection and management can significantly improve outcomes for individuals with skeletal dysplasia.