Associated disorders

The ST3GAL5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Amish infantile epilepsy syndrome (MedGen UID: 323005).

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Invitae tests that include this gene:

Invitae Epilepsy Panel up to 103 genes

Lipids on the inner and outer surfaces of the cytoplasmic membrane can be modified to confer specialized function. Gangliosides are lipids modified by both sugar moieties and sialic acid. The ST3GAL5 gene encodes an enzyme expressed predominantly in the central nervous system that catalyzes the early steps of several ganglioside synthesis pathways.

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
ST3GAL5 NM_003896.3