Dual Sequencing Approach Determines Both Novel Variants Specific to Asian Patients, and Challenging Mutations Not Easily Detected by Routine Sequencing Methods
SAN FRANCISCO, CA, UNITED STATES, September 20, 2022 /EINPresswire.com/ — U.S. and Hong Kong-based Rainbow Genomics launches a twin complete exome sequencing and 300-gene “challenging mutation” sequencing check for retinal dystrophy (eye problems). This check determines the genetic etiologies (genetic causes) related to a variety of retinal problems, together with retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis.
The Rainbow Dual Testing Approach:
A. Whole-Exome Analysis – Multiple retinal problems and their related pathogenic genetic variants will likely be reviewed.
• Over 1100 genes are identified to be related to irregular retinal morphology. Physicians could select to make use of exome sequencing, which analyzes over 20,000 genes, because the first-line check to rapidly decide the causal gene mutations related to eye dysfunction signs
• Up-to-the-minute, newly-reported genes are mechanically included for evaluation
• Copy quantity, duplication, insertion, deletion and single-nucleotide variant evaluation is included
B. 300-Gene “Challenging Mutation” Sequencing determines copy quantity variants (CNVs) and the next “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
Major Eye Disorders Tested by Rainbow Dual Testing
o Retinitis pigmentosa (RP)
o Cone-Rod Dystrophy (CRD)
o Leber congenital amaurosis (LCA)
o Congenital non-progressive cone-rod synaptic dysfunction (CRSD)
o Achromatopsia
o Bietti crystalline corneoretinal dystrophy (BCD)
o Bradyopsia
o Chediak-Higashi syndrome
o Choroideremia
o Congenital nystagmus sort 1
o Congenital stationary night time blindness (CSNB)
o Early and Late-onset Retinal degeneration
o Ectopia lentis
o Enhanced S-cone syndrome
o Familial exudative vitreoretinopathy (FEVR)
o Fundus albipunctatus (FA)
o Gyrate atrophy of choroid and retina
o Isolated microphthalmia
o Juvenile retinoschisis
o Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)
o Microcephaly with chorioretinopathy
o Microphthalmia, anophthalmia, coloboma (MAC) spectrum
o Myopia with cataract and vitreoretinal degeneration
o Neovascular inflammatory vitreoretinopathy (ADNIV)
o Oculocutaneous albinism
o Optic atrophy
o Persistent hyperplastic main vitreous (PHPVAR)
o Snowflake vitreoretinal degeneration
o Stargardt illness
o Sveinsson chorioretinal atrophy (SCRA)
o Vitelliform macular dystrophy (VMD1) and autosomal recessive bestrinopathy
o An further 1000 problems (not listed) related to irregular retinal morphology are additionally examined utilizing complete exome sequencing
Benefits of twin complete exome sequencing and gene-specific deep sequencing strategy:
• Novel variant evaluation – Recently found gene variants, normally not lined by gene panel testing (100-900 genes), will likely be included by complete exome sequencing (20,000 genes)
• Ethnic-specific deep evaluation – Chinese, East Asian and South Asian particular variants, typically not reported (or with conflicting classifications) in ClinVar and different worldwide databases, will likely be fastidiously reviewed by Rainbow’s scientific groups
For extra info, please go to Rainbow Genomics web site or contact us at [email protected]
About Rainbow Genomics
Rainbow Genomics (www.rainbowgenomics.com) is dedicated to offering clinically-validated genomic and proteomic testing to Asian, Caucasian, mixed-race, and native minority populations. The firm delivers excessive diagnostic success for physicians, enabling timely-treatment for sufferers that may profit from speedy medical interventions.
Utilizing a multi-technology-platform strategy, together with proteomics, complete genome, complete exome, RNA, long-read, methylation, single cell and Sanger sequencing, high-resolution microarray testing, and high-density DNA array genotyping, and via a number of worldwide collaborations, Rainbow Genomics delivers a diagnostic yield assembly or exceeding the very best requirements reported by main U.S. and European medical establishments.
All Rainbow Genomics assessments are carried out in CLIA-certified and CAP-accredited high-complexity scientific laboratories. Patient privateness is protected by Rainbow’s HIPAA-compliant scientific testing course of.
DANIEL SIU
Rainbow Genomics
+852 3481 0977
electronic mail us right here
