The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the PCDH19 gene are associated with 11-16% of females with early infantile epileptic encephalopathy (EIEE).
Cadherins are a diverse group of cell-surface proteins that physically bind cells together, helping to establish cell and tissue polarity. The PCDH19 gene encodes a protocadherin, a type of cell adhesion molecule expressed specifically in the central nervous system. It is thought to be important for neural progenitor cell migration and embryonic brain development (PMID: 22535893).
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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|