Any variants that fall outside these regions are not analyzed. In addition, the analysis covers select non-coding variants. Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Some genes in this test may be associated with additional disorders unrelated to this panel such additional conditions are not included in the list of disorders tested. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause.
#Gopanel for mac mac
These genes were selected based on the available evidence to date to provide a broad analysis for inherited MAC and anterior segment dysgenesis. The Invitae Microphthalmia, Anophthalmia, Coloboma ( MAC) and Anterior Segment Dysgenesis Panel analyzes genes that are associated with MAC and anterior segment dysgenesis, which are characterized by changes in the size of the eye and/or abnormalities of the front part of the eye (anterior segment), including the iris.
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