Nx GEN SEQUENCING LEBER CONGENITAL AMAUROSIS Test
Test Cost: AED 5730.0
Symptoms, Diagnosis, and Test Details
Leber Congenital Amaurosis (LCA) is a rare genetic disorder that affects the retina of the eye, causing severe vision loss or blindness from birth or early infancy. It is caused by mutations in one or more genes that are involved in the function of the retina.
The Nx Gen Sequencing LCA test is a non-invasive genetic testing method that uses next-generation sequencing technology to analyze a patient’s DNA for mutations in genes associated with LCA. By identifying the specific genetic mutations responsible for the patient’s condition, this test can help with accurate diagnosis and effective management of the disease.
Test Components
- AIPL1
- CABP4
- CEP290
- CRB1
- CRX
- GUCY2D
- IMPDH1
- IQCB1
- KCNJ13
- LCA5
- LRAT
- NM-NAT1
- OTX2
- RD3
- RDH12
- RPE65
- RPGRIP1
- SPATA7
- TULP1
Test Details and Method
The Nx Gen Sequencing LCA test requires a small blood sample or cheek swab from the patient. The sample should be 10 mL (minimum 5 mL) whole blood from 2 Lavender Top (EDTA) tubes. It should be shipped refrigerated and should not be frozen. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory for the test.
The test is performed using Next-Generation Sequencing (NGS) and Sanger sequencing methods in the Molecular Diagnostics department of DNA Labs UAE. The test type specifically focuses on detecting defects in the retina associated with Leber Congenital Amaurosis.
Report Delivery and Pre-Test Information
The report for the Nx Gen Sequencing LCA test is delivered daily by 9 am. The turnaround time for the report is 45 working days.
Prior to the test, it is mandatory to fill the Whole Exome Sequencing Consent Form (Form 37).
Doctor and Test Department
The test is recommended by Ophthalmologists and is performed in the Molecular Diagnostics department of DNA Labs UAE.
Conclusion
The Nx Gen Sequencing LCA test is a valuable tool for diagnosing and managing Leber Congenital Amaurosis. It is a non-invasive test that provides important information about the patient’s condition, prognosis, and potential treatment options. By identifying the specific genetic mutations responsible for LCA, this test aids in accurate diagnosis and effective management of this rare genetic disorder.
Test Name | Nx GEN SEQUENCING LEBER CONGENITAL AMAUROSIS Test |
---|---|
Components | AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NM- NAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 |
Price | 5730.0 AED |
Sample Condition | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Report Delivery | Sample Daily by 9 am; Report 45 Working days |
Method | NGS, Sanger sequencing |
Test type | Leber Congenital Amaurosis-defect in Retina |
Doctor | Ophthalmologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details | Leber Congenital Amaurosis (LCA) is a rare genetic disorder that affects the retina of the eye, causing severe vision loss or blindness from birth or early infancy. It is caused by mutations in one or more genes that are involved in the function of the retina. Nx Gen Sequencing is a genetic testing method that uses next-generation sequencing technology to analyze a patient’s DNA for mutations in genes associated with LCA. This test can identify the specific genetic mutations that are responsible for the patient’s condition, which can help with diagnosis and management of the disease. The Nx Gen Sequencing LCA test is a non-invasive test that requires only a small blood sample or cheek swab from the patient. The sample is sent to a laboratory where it is analyzed using advanced sequencing technology. The results of the test can be used to confirm a diagnosis of LCA and to provide information about the patient’s prognosis and potential treatment options. Overall, the Nx Gen Sequencing LCA test is a valuable tool for diagnosing and managing this rare genetic disorder, and it can provide important information for patients and their families. |