IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 With Or Without Polydactyly NGS Genetic DNA Test
The IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 with or without Polydactyly NGS Genetic DNA Test is a vital diagnostic tool that provides insights into genetic disorders associated with skeletal abnormalities. This test utilizes Next-Generation Sequencing (NGS) technology to analyze the IFT80 gene, which is crucial for understanding dysmorphology and related conditions.
Why This Test is Important
Understanding genetic disorders allows for early diagnosis and intervention, which can significantly improve patient outcomes. The IFT80 gene plays a pivotal role in the development of the ribcage and limbs, and mutations can lead to serious health implications.
What the Test Measures
This test detects mutations in the IFT80 gene that may cause Short-Rib Thoracic Dysplasia Type 2, a condition characterized by shortened ribs and thoracic cavity abnormalities. It can also identify the presence of polydactyly, a condition where an individual has extra fingers or toes.
Who Should Consider This Test?
Individuals with a family history of skeletal dysplasias or those exhibiting symptoms such as:
- Short stature
- Respiratory difficulties
- Abnormal limb development
- Polydactyly
should consider this test. Genetic counseling is recommended to discuss the implications of test results.
Benefits of Taking the Test
- Early diagnosis of genetic conditions.
- Informed family planning and management options.
- Access to specialized care and treatment plans.
- Understanding your genetic health and risks.
Understanding Your Results
Results will be interpreted by qualified genetic specialists who will provide guidance on the implications of the findings. It is essential to discuss results with a healthcare provider to understand the next steps.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 With Or Without Polydactyly NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Book Your Test Today!
Don’t wait to understand your genetic health. Book the IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 with or without Polydactyly NGS Genetic DNA Test today. For appointments, please call or WhatsApp us at +2348077798758.
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 and a genetic counseling session to draw a pedigree chart of family members affected with the IFT80 gene is recommended.