Associated disorders

The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (EIEE) (MedGen UID: 338393).

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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.

Assay and technical information

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
PCDH19 NM_001184880.1