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Nx GEN Sequencing Leber Congenital Amaurosis Test

5,730 د.إ

-10%

Leber Congenital Amaurosis (LCA) is a genetic disorder that leads to severe vision loss or blindness at birth or within the first few months of life. To provide a precise diagnosis and potentially guide treatment options, the Nx Gen Sequencing Leber Congenital Amaurosis Test is offered by DNA Labs UAE. This advanced genetic test utilizes next-generation sequencing (NGS) technology to analyze the specific genes known to be associated with LCA, allowing for the identification of mutations that may be responsible for the condition in affected individuals.

The test is priced at 5730 AED and is conducted in the state-of-the-art facilities of DNA Labs UAE, which is equipped with the latest in genetic testing technology. By pinpointing the exact genetic mutations present, this test not only facilitates an accurate diagnosis but also helps in understanding the inheritance patterns of the disorder, which is crucial for affected families considering future pregnancies. Moreover, with the rapid advancements in gene therapy and other treatments, identifying the specific genetic cause of LCA can open up new avenues for personalized treatment plans.

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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.