Nx Gen Sequencing Leber Congenital Amaurosis Test
Introduction to the Test
The Nx Gen Sequencing Leber Congenital Amaurosis Test is a specialized genetic test that plays a vital role in diagnosing Leber Congenital Amaurosis (LCA), a rare inherited retinal disease. This condition often leads to severe vision impairment or blindness in infants and young children. Early diagnosis through genetic testing can significantly enhance patient management and treatment options.
What the Test Measures
This test analyzes specific genes associated with LCA, including AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NM-NAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1. By identifying mutations in these genes, healthcare providers can confirm a diagnosis of LCA.
Who Should Consider This Test
Individuals who exhibit symptoms of vision loss, particularly in childhood, should consider this test. Risk factors include a family history of retinal disorders or genetic conditions. If you or your child experience symptoms such as poor vision, nystagmus, or sensitivity to light, it is advisable to consult an ophthalmologist for further evaluation.
Benefits of Taking the Test
- Accurate diagnosis of Leber Congenital Amaurosis.
- Guidance for treatment options and management strategies.
- Informed family planning for those with a genetic predisposition.
- Access to specialized care and support services.
Understanding Your Results
Once the test is completed, results will be available within 45 working days. It is essential to discuss the findings with your healthcare provider to understand the implications of the results and the next steps in management.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 57,330 |
Regular Price | 63,700 |
How to Book the Test
We have branches across all major cities in Kenya, and we offer home sample collection services for your convenience. To book the Nx Gen Sequencing Leber Congenital Amaurosis Test, please call or WhatsApp us at +254711564616. Ensure that you have the duly filled Whole Exome Sequencing Consent Form (Form 37) ready before the sample collection.
Don’t wait to gain clarity on your vision health. Book the Nx Gen Sequencing Leber Congenital Amaurosis Test today!