This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). ![]() If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only) single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Less commonly, hearing loss from Usher syndrome appears during adolescence or later. Most children with Usher syndrome are born with moderate to profound hearing loss, depending on the type. The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 2030 of RP cases. Deafness or hearing loss in Usher syndrome is caused by abnormal development of hair cells (sound receptor cells) in the inner ear. The blindness occurs from a progressive retinal degeneration termed retinitis. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. Background Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. Usher syndrome (USH) is a group of recessively inherited disorders characterized by deafness and vision loss. ![]() Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. All sequencing technologies have limitations.
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