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Nx GEN Sequencing Microphthalmia Anophthalmia Coloboma Spectrum Test

Original price was: 6,370 د.إ.Current price is: 5,730 د.إ.

-10%

The Nx Gen Sequencing Microphthalmia Anophthalmia Coloboma Spectrum Test is a comprehensive genetic screening designed to diagnose conditions within the spectrum of eye development disorders, including microphthalmia (small eye), anophthalmia (absence of one or both eyes), and coloboma (missing pieces of tissue in structures that form the eye). Utilizing next-generation sequencing (NGS) technology, this test can identify mutations in the genes known to be associated with these conditions, offering insights into the genetic cause of the disorder in affected individuals.

Performed at DNA Labs UAE, a leading facility in genetic testing, the test aims to provide crucial information for diagnosis, management, and genetic counseling for families affected by these conditions. With a cost of 5730 AED, the test represents an investment in understanding the genetic underpinnings of these eye development disorders, potentially guiding treatment options and supporting research into new therapies. This test is particularly valuable for families seeking answers about the genetic basis of these conditions and for healthcare professionals involved in the care of patients with visual impairments due to developmental eye disorders.

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  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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Nx GEN SEQUENCING MICROPHTHALMIA ANOPHTHALMIA COLOBOMA SPECTRUM Test

Test Name: Nx GEN SEQUENCING MICROPHTHALMIA ANOPHTHALMIA COLOBOMA SPECTRUM Test

Components: ABCB6, ALDH1A3, BCOR, BMP4, CHD7, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, MAB21L2, MFRP, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SALL2, SALL4, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, VAX1, VSX2

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: Defects in Eye

Doctor: Ophthalmologist

Test Department: MOLECULAR DIAGNOSTICS

Pre Test Information: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Test Details

The Nx Gen Sequencing Micropthalmia/Anophthalmia/Coloboma Spectrum Test is a genetic test that can identify mutations or changes in genes associated with the development of eye abnormalities. These abnormalities can include microphthalmia (small eyes), anophthalmia (absence of one or both eyes), and coloboma (a gap or hole in one or more structures of the eye).

The test uses next-generation sequencing technology to analyze a panel of genes that have been linked to these eye abnormalities. The genes analyzed may vary depending on the specific version of the test being used, but typically include genes such as PAX6, SOX2, OTX2, and CHD7.

By identifying genetic mutations or changes, the test can provide information about the underlying cause of an individual’s eye abnormality. This information can be useful for diagnosis, treatment, and genetic counseling.

The test is typically performed on a blood or saliva sample, and results are usually available within a few weeks. It is important to note that not all cases of eye abnormalities are caused by genetic mutations, and the test may not identify a cause in every case.

Test Name Nx GEN SEQUENCING MICROPHTHALMIA ANOPHTHALMIA COLOBOMA SPECTRUM Test
Components ABCB6, ALDH1A3, BCOR, BMP4, CHD7, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, MAB21L2, MFRP, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SALL2, SALL4, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, VAX1, VSX2
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 Defects in Eye
Doctor Ophthalmologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details

The Nx Gen Sequencing Micropthalmia/Anophthalmia/Coloboma Spectrum Test is a genetic test that can identify mutations or changes in genes associated with the development of eye abnormalities. These abnormalities can include microphthalmia (small eyes), anophthalmia (absence of one or both eyes), and coloboma (a gap or hole in one or more structures of the eye).

The test uses next-generation sequencing technology to analyze a panel of genes that have been linked to these eye abnormalities. The genes analyzed may vary depending on the specific version of the test being used, but typically include genes such as PAX6, SOX2, OTX2, and CHD7.

By identifying genetic mutations or changes, the test can provide information about the underlying cause of an individual’s eye abnormality. This information can be useful for diagnosis, treatment, and genetic counseling.

The test is typically performed on a blood or saliva sample, and results are usually available within a few weeks. It is important to note that not all cases of eye abnormalities are caused by genetic mutations, and the test may not identify a cause in every case.