The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 798627), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). Other L1CAM-related conditions have been reported (OMIM: 308840).
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Invitae tests that include this gene:
The L1CAM gene is the sole known cause of L1 syndrome and its allelic variants SPG1 and MASA syndrome.
The L1CAM gene encodes the L1 protein. The L1 protein is a cell adhesion molecule that is expressed in the nervous system and functions in a variety of processes, including neurite outgrowth, myelination, and neuronal cell survival.
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|