Nx Gen Sequencing Alkaptonuria Test
Introduction
The Nx Gen Sequencing Alkaptonuria Test is a state-of-the-art diagnostic tool that plays a crucial role in identifying genetic mutations associated with Alkaptonuria, a rare inherited metabolic disorder. This test utilizes advanced Next-Generation Sequencing (NGS) and Sanger sequencing methodologies to provide accurate and reliable results, enabling healthcare providers to make informed decisions regarding patient management.
What the Test Measures
This test specifically measures the presence of mutations in the HGD gene, which is responsible for the metabolism of homogentisic acid. Elevated levels of this acid can lead to significant health issues, including joint pain and damage, as well as dark pigmentation in urine.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Joint pain or arthritis
- Dark or brownish urine
- Family history of Alkaptonuria
are encouraged to consider this test. Additionally, those with risk factors for inherited metabolic disorders should consult their healthcare provider about the necessity of this diagnostic test.
Benefits of Taking the Test
- Accurate identification of genetic mutations associated with Alkaptonuria.
- Guidance for personalized treatment plans and management strategies.
- Early detection can lead to better outcomes and quality of life.
- Helps in understanding family risk and genetic counseling options.
Understanding Your Results
Results from the Nx Gen Sequencing Alkaptonuria Test will provide insights into whether genetic mutations are present. A healthcare professional will help interpret these results, explaining their implications for your health and potential treatment options.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Nx Gen Sequencing Alkaptonuria Test | 468000 NGN | 520000 NGN |
Booking the Test
To book the Nx Gen Sequencing Alkaptonuria Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.
Pre-Test Instructions
It is mandatory to submit a duly filled Whole Exome Sequencing Consent Form (Form 37) along with your sample. Please ensure you follow all instructions for sample collection:
- Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes.
- Ship refrigerated. DO NOT FREEZE.
Turnaround Time
Samples should be submitted daily by 9 am, and reports will be available within 40 working days.
Specialty and Department
This test falls under the specialty of Neurology and is conducted in the Molecular Diagnostics department.
Utilizing the Nx Gen Sequencing Alkaptonuria Test can provide you with valuable insights into your genetic health. Don’t wait any longer; book your test today!
