XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test
Introduction to the XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test
The XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test is a specialized genetic test that utilizes Next Generation Sequencing (NGS) technology to detect mutations in the XYLT1 gene. This test is particularly important for diagnosing Desbuquois dysplasia, a rare genetic disorder that affects skeletal development and can lead to significant health challenges in affected individuals.
What the Test Measures
This genetic test measures the presence of mutations in the XYLT1 gene, which are associated with Desbuquois dysplasia type 2. The identification of these mutations can aid in confirming a diagnosis and understanding the genetic basis of the disorder.
Who Should Consider This Test?
Individuals who should consider the XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test include:
- Children exhibiting symptoms of dysmorphology, such as skeletal abnormalities and short stature.
- Families with a history of Desbuquois dysplasia or other genetic disorders.
- Patients requiring genetic counseling to understand their risk factors and implications for family planning.
Benefits of Taking the Test
The benefits of undergoing the XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test include:
- Accurate diagnosis of Desbuquois dysplasia type 2.
- Informed decision-making for treatment and management plans.
- Guidance for family planning and understanding the hereditary nature of the condition.
- Access to specialized care and support services for affected individuals.
Understanding Your Results
Once the test is completed, results will be provided indicating whether a mutation in the XYLT1 gene has been detected. It is essential to discuss these results with a healthcare provider or genetic counselor to fully understand their implications and the next steps in management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to the test, a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected by the XYLT1 gene are recommended.
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer home sample collection services. To book the XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254746286171.
