Rainbow Eye Disorder

Dual Retinal Dystrophy 330-Gene “Challenging Mutation” Sequencing and Whole Exome Sequencing Test

Introduction

This test determines the genetic etiologies (genetic causes) associated with a wide range of retinal disorders, including retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis.

Extensive analysis of genetic variants associated with the RPE65 gene may provide evidence for considerations of human gene therapy for RPE65-associated Leber’s congenital amaurosis on visual function.

  • Using clinical whole exome sequencing, with analysis of over 20,000 genes coupled with review of disorder-specific genes, this test overcomes the low-diagnostic yield limitation of gene-panel and array-based testing.

  • Whole-Exome Analysis - Multiple retinal disorders and their associated pathogenic genetic variants will be reviewed.

    • Over 1100 genes are known to be associated with abnormal retinal morphology. Physicians may choose to use exome sequencing, which analyzes over 20,000 genes, as the first line test to quickly determine the causative gene mutation associated with eye disorder symptoms.

    • Up-to-the-minute, newly-reported genes are automatically included for analysis.

  • 330-Gene "Challenging Mutation" Sequencing determines copy number variants (CNVs) and the following "hard-to-detect" mutations:

    • RPGR gene exon 15 (ORF15)

    • CACNA2D4 gene AJ, exon 31-38, exon 35 deletions

    • CLN3 gene 1Kb deletion

    • MAK gene Alu insertion

    • TRPM1 gene AJ, exons 227 duplications and deletions

    • Copy number, duplication, insertion, deletion and single-nucleotide variant analysis included

Major Eye Disorders Tested

  • The following specific retinal disorders are tested using both 330-gene and whole exome sequencing

  • An additional 1000 disorders (not listed) associated with abnormal retinal morphology are also tested using whole exome sequencing

    • Retinitis pigmentosa (RP)

    • Cone-Rod Dystrophy (CRD)

    • Leber congenital amaurosis (LCA)

    • Congenital non-progressive cone-rod synaptic disorder (CRSD)

    • Achromatopsia

    • Bietti crystalline corneoretinal dystrophy (BCD)

    • Bradyopsia

    • Chediak-Higashi syndrome

    • Choroideremia

    • Congenital nystagmus type 1

    • Congenital stationary night blindness (CSNB)

    • Early and Late-onset Retinal degeneration

    • Ectopia lentis

    • Enhanced S-cone syndrome

    • Familial exudative vitreoretinopathy (FEVR)

    • Fundus albipunctatus (FA)

    • Gyrate atrophy of choroid and retina

    • Isolated microphthalmia

    • Juvenile retinoschisis

    • Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)

    • Microcephaly with chorioretinopathy

    • Microphthalmia, anophthalmia, coloboma (MAC) spectrum

    • Myopia with cataract and vitreoretinal degeneration

    • Neovascular inflammatory vitreoretinopathy (ADNIV)

    • Oculocutaneous albinism

    • Optic atrophy

    • Persistent hyperplastic primary vitreous (PHPVAR)

    • Snowflake vitreoretinal degeneration

    • Stargardt disease

    • Sveinsson chorioretinal atrophy (SCRA)

    • Vitelliform macular dystrophy (VMD1) and autosomal recessive bestrinopathy

Whole Exome

&

Specific Gene Analysis

  • Whole exome sequencing test analyze 20,000 genes to determine pathogenic mutations associated with retinal dystrophy, and additional eye disorders, including abnormal retinal morphology.

    • Reporting of gene mutations associated with myopia (near-sightedness) and genetic disorders that can cause myopia can be ordered, at no additional cost. 336 genes associated with these conditions will be analyzed.

  • 330-Gene "Challenging Mutation" Sequencing determines difficult-to-detect genetic variants in these genes known to be associated with various retinal dystrophy conditions

  • Both tests provide extensive analysis of RPE65 gene. Positive mutation findings in the RPE65 gene may support human gene therapy for RPE65-associated Leber’s congenital amaurosis

Incidental Findings (Health Screening Report) From Your Exome Analysis

  • If patients would like to understand their risk of developing a genetic disorders such as hereditary cancers, cardiovascular disorders, familial hypercholesterolemia, hearing, bone and neurological diseases, etc., incidental finding and health screening reports can be ordered with the whole exome sequencing test, at no additional cost to the patients.

  • Because we need to screen over 20,000 genes, this health screening report can only be obtained from the whole exome sequencing test data.

  • Our Master's degree-holding (Australia) genetic counselor can provide patient genetic counseling regarding any incidental findings. An additional nominal fee will be charged by the counselor.

Test Descriptions

  • Both 330-gene sequencing and whole exome sequencing testing are processed at U.S. CLIA-certified and CAP-accredited, high-complexity clinical testing laboratories

  • To assure the highest reporting accuracy, Rainbow's Triple Clinical Interpretation(TM) Analysis will be performed

    • Data analysis is performed using US, UK and Israeli bioinformatic platforms

    • Analysis and clinical interpretation are performed by U.S. board-certified clinical geneticists

    • Mutations are further verified by using artificial intelligence and proprietary algorithms

  • Clinical reports are issued by board-certified medical directors (MD. & Ph.D.) and clinical geneticists

  • Optional English and Chinese language genetic counseling will be provided by U.S. and Australia board-eligible genetic counselors with multiple years of clinical experience

  • Written genetic counselor summary is included in the report

Benefits Of Whole Exome Sequencing Test

  • Recently discovered gene variants, usually not covered by fixed panel, will be included

  • Chinese, East Asian and South Asian specific variants, often not reported (or with conflicting classifications) in ClinVar and other international databases, will be carefully reviewed by Rainbow’s clinical teams in Japan and the U.S.

  • Rainbow's triple clinical interpretation approach (US and Japanese bioinformatics platforms, clinical geneticists and medical teams) has substantially increased our diagnostic yield for Asian patients compared to diagnostic yields reported in the literature.

Is This Test Right For You?

  • If you have eye disorder symptoms and would like to determine if your condition is caused by a gene mutation, you may want to discuss with your physician about receiving this genetic test.

  • If you already have a diagnosis of retinitis pigmentosa, and would like to confirm if you carry a mutation in the RPE65 gene, so that you may be able to receive gene therapy, these tests maybe right for you. For more information, please discuss with your physician.

We provide free referrals to physicians with substantial clinical genetic experience for pre- and post-test consultation.