The Invitae Glass Syndrome test analyzes the SATB2 gene. Glass syndrome is characterized by intellectual disability and dysmorphic facial features.
Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Glass syndrome is a developmental disorder that includes severe, but variable, intellectual disability and dysmorphic facial features, including midface hypoplasia, downslanting palpebral fissures, cleft palate, micrognathia, and associated crowded teeth. Patients may also present with seizures, growth retardation, arachnodactyly, joint laxity and happy demeanor. All reported individuals with Glass syndrome have been shown to carry de novo heterozygous SATB2 mutations or deletions of cytogenetic region 2q32-2q33, most of which include the SATB2 gene. The clinical presentation may vary in individuals with different deletions within this region. Cytogenetic studies including array CGH, as well as panels that include genes that cause overlapping phenotypes should also be considered in individuals with a suspected diagnosis of Glass syndrome.
SATB2 is the only gene known to be associated with Glass syndrome. However, due to the rarity of this condition, the percent of Glass syndrome attributed to pathogenic variants in SATB2 is currently unknown.
Glass syndrome is inherited in an autosomal dominant pattern, and all documented genetic variants have been de novo.
The penetrance of this disease is uncertain, but is thought to be very high.
The prevalence of this disease is unknown.
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).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|