CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A; HSP22
The HSPB8 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) (MedGen UID: 324826) and distal hereditary motor neuropathy 2A (HMN2A) (MedGen UID: 322471).
Order this gene as a single gene test.
Invitae tests that include this gene:
HSPB8 is a rare cause of CMT and distal hereditary motor neuropathy, and the percentage of cases of these conditions attributed to pathogenic variants identified in HSPB8 is unknown.
The gene HSPB8 encodes a protein called heat shock 22-KD protein 8. Although this protein is found in cells throughout the body, it is particularly abundant in nerve cells, where it facilitates the removal of misfolded proteins and promotes cell survival.
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|