Associated disorders

The HEXA gene is associated with autosomal recessive Tay-Sachs disease (MedGen UID: 11713).

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Pathogenic variants in the HEXA gene are the only known cause of Tay-Sachs disease.

The HEXA gene is involved in the production of a protein that is made up of 2 related enzymes, beta-hexosaminidase A and beta-hexosaminidase S. Beta-hexosaminidase A has one alpha subunit and one beta subunit. Beta-hexosaminidase S has 2 alpha subunits. Hexosaminidase A is a lysosomal enzyme needed for the breakdown of GM2 ganglioside, while Beta-hexosaminidase S is involved in the degradation of glycosaminoglycans and sulfated glycolipids.

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
HEXA NM_000520.4