Associated disorders

The HSPD1 gene is associated with autosomal dominant Hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP-60 disease (Medgen UID: 383026).

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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.

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
HSPD1 NM_002156.4