Associated disorders

The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).

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Invitae tests that include this gene:

The NSD1 gene encodes a histone methyltransferase with multiple functional domains. Histones are proteins bound to DNA that give structure to chromosomes. The placement of histones allows for genes to be actively transcribed or turned off. The NSD1 protein functions to add methyl groups to histones, subsequently controlling the transcription of the surrounding genes. Proper functioning of this process is essential for normal growth and development.

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
NSD1 NM_022455.4