IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly NGS Genetic DNA Test
Introduction to the Test
The IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the IFT172 gene, which are associated with skeletal dysmorphology, particularly short-rib thoracic dysplasia. This condition can lead to various physical abnormalities and complications, making early detection crucial for effective management and treatment.
What the Test Measures
This test specifically measures genetic variations in the IFT172 gene. By analyzing the DNA, we can detect mutations that may result in clinical manifestations of short-rib thoracic dysplasia type 10, which may include skeletal abnormalities and polydactyly.
Who Should Consider This Test
Individuals who should consider this test include:
- Families with a history of short-rib thoracic dysplasia or related skeletal dysmorphologies.
- Patients exhibiting symptoms such as short stature and skeletal abnormalities.
- Individuals with polydactyly or those at risk due to family genetics.
Benefits of Taking the Test
The benefits of undergoing the IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly NGS Genetic DNA Test include:
- Accurate identification of genetic predispositions, aiding in early diagnosis.
- Informed family planning and counseling based on genetic findings.
- Better management of health conditions associated with the identified mutations.
- Access to support resources and specialist referrals.
Understanding Your Results
After the test is completed, results will be provided within 3 to 4 weeks. It is essential to review the results with a qualified genetic counselor or medical professional who can help interpret the findings and recommend any necessary follow-up actions or treatments.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 56,000 |
Sample Collection and Instructions
The test can be performed using:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
Prior to testing, a genetic counseling session is recommended to obtain a detailed clinical history and to draw a pedigree chart of family members affected by the condition.
Book Your Test Today!
We have branches across all major cities in Kenya, making it convenient for you to access our services. To book the IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly NGS Genetic DNA Test, please contact us at +254711564616 or visit our website to schedule your appointment.