Nx Gen Sequencing Alkaptonuria Test
Introduction
The Nx Gen Sequencing Alkaptonuria Test is a state-of-the-art diagnostic tool designed to detect Alkaptonuria, a rare inherited metabolic disorder. This test utilizes advanced Next Generation Sequencing (NGS) and Sanger sequencing methods to provide accurate and reliable results. Alkaptonuria leads to the accumulation of homogentisic acid in the body, which can cause severe joint and tissue damage over time. Early diagnosis is crucial for effective management and treatment of the condition.
What the Test Measures
This test measures the presence of specific genetic mutations associated with Alkaptonuria. By analyzing DNA from a blood sample, the test can detect variations in the HGD gene, which is responsible for the metabolism of homogentisic acid.
Who Should Consider This Test?
Individuals who may benefit from the Nx Gen Sequencing Alkaptonuria Test include:
- People with a family history of Alkaptonuria or related metabolic disorders.
- Patients exhibiting symptoms such as joint pain, dark urine, or skin discoloration.
- Individuals diagnosed with osteoarthritis at a young age.
Benefits of Taking the Test
Taking the Nx Gen Sequencing Alkaptonuria Test offers several benefits:
- Early diagnosis allows for timely intervention and management.
- Helps in understanding the risk of passing the disorder to future generations.
- Provides peace of mind through accurate genetic information.
Understanding Your Results
Once the results are available, they will indicate whether any mutations in the HGD gene were detected. A positive result confirms the diagnosis of Alkaptonuria, while a negative result suggests that the individual does not carry the mutations associated with the disorder. It is essential to discuss the results with a healthcare provider for proper interpretation and guidance.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Nx Gen Sequencing Alkaptonuria Test | 46800 KSh | 52000 KSh |
Sample Collection Instructions
To perform this test, please submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes, ensuring the samples are shipped refrigerated. Please Note: DO NOT FREEZE the samples. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory for processing.
Our Services
We have branches across Kenya, making it easy for you to access the Nx Gen Sequencing Alkaptonuria Test. Our dedicated team is here to assist you with the booking process.
Book the Test Today!
Don’t wait to get the answers you need. Contact us at +254711564616 to book your Nx Gen Sequencing Alkaptonuria Test today!
