The Invitae TP63-Related Disorders Test analyzes the TP63 gene that is associated with a group of disorders characterized by varying combinations of ectodermal dysplasia, clefting, split-hand/foot malformations, lacrimal duct obstruction and hypopigmentation:
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.
TP63-related disorders represent a class of overlapping phenotypes that share a common spectrum of features including variable forms of ectodermal dysplasia, cleft lip/palate, hypopigmented skin, split-hand/foot malformation and/or syndactyly, and hypoplasia of the breasts and/or nipples. Features are typically present at birth, but the number and severity of symptoms may be genotype dependent.
Although TP63-related disorders are rare, nearly all individuals with a clinical diagnosis of a TP63-related disorder are found to have a pathogenic variant in TP63. The TP63 gene is estimated to account for approximately 10% of isolated split-hand/foot malformations.
TP63-related disorders are inherited in an autosomal dominant manner. Pathogenic variants can be inherited from an affected parent but in most cases (approximately 70%) the pathogenic variant occurs de novo.
This condition is considered highly penetrant; however, reduced penetrance has been reported in some families.
TP63-related disorders are rare and the prevalence is unknown.
This test could be considered for individuals with:
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|