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JPH2

Alias

CMH17; JP-2; JP2

Associated disorders

The JPH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614).

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JPH2

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Invitae tests that include this gene:

Pathogenic JPH2 variants are associated with an unknown percentage of clinical cases of HCM.

The JPH2 gene encodes the protein junctophilin-2. This protein is a component of the junctional complexes, which facilitate signaling between the cell surface and intracellular ion channels. Pathogenic variants in genes that encode proteins involved with signaling between cardiac cellular components are associated with inherited cardiomyopathies.

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 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
JPH2 NM_020433.4