CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65; HuCHA60; SPG13
The HSPD1 gene is associated with autosomal dominant hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289). Additionally, the HSPD1 gene has preliminary evidence supporting a correlation with autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP60 disease (Medgen UID: 383026).
Order this gene as a single gene test.
Invitae tests that include this gene:
HSPD1 is the sole known cause of hypomyelinating leukodystrophy-4, while the percentage of autosomal dominant HSP attributed to pathogenic variants in HSPD1 is unknown.
The HSPD1 gene encodes the heat shock 60kDa protein 1, a member of the chaperonin family. The protein encoded by this gene is essential for the folding and assembly of proteins that are imported into the mitochondria.
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|