Nx Gen Sequencing Leber Congenital Amaurosis Test
Introduction
The Nx Gen Sequencing Leber Congenital Amaurosis Test is a state-of-the-art genetic test that plays a crucial role in diagnosing Leber Congenital Amaurosis (LCA), a severe inherited retinal disorder that leads to vision loss at a young age. By examining the genetic makeup of patients, this test can identify mutations in various genes associated with LCA, providing valuable insights for patients and their families.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) and Sanger sequencing methods to detect mutations in the following genes: AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NM-NAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1. Identifying these mutations can confirm a diagnosis of LCA and guide treatment options.
Who Should Consider This Test?
This test is recommended for individuals experiencing symptoms of vision loss, particularly those with a family history of retinal diseases. Risk factors include:
- Family history of Leber Congenital Amaurosis or other retinal disorders
- Early onset of vision problems
- Symptoms such as night blindness or limited peripheral vision
Benefits of Taking the Test
Taking the Nx Gen Sequencing Leber Congenital Amaurosis Test offers several benefits:
- Accurate identification of genetic mutations responsible for vision loss
- Guidance for potential treatment options and management strategies
- Informed family planning and risk assessment for future generations
- Access to specialized care and support services
Understanding Your Results
Once the test is completed, results will be available within 45 working days. A genetic counselor or healthcare provider will help interpret the findings, explaining the implications of any identified mutations and discussing next steps in management.
Test Pricing
| Price Type | Price (NGN) |
|---|---|
| Discount Price | 573300 NGN |
| Regular Price | 637000 NGN |
How to Book the Test
To book the Nx Gen Sequencing Leber Congenital Amaurosis Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Pre-Test Instructions
Before undergoing the test, please ensure you submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. The sample must be shipped refrigerated, and it is essential to fill out the Whole Exome Sequencing Consent Form (Form 37) prior to testing.
Turnaround Time
Samples are accepted daily by 9 am, with reports available within 45 working days.
For further information and to take control of your health, contact us today!
