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Description
The L1 cell adhesion molecule is one of a subgroup of structurally related integral membrane glycoproteins belonging to a large class of immunoglobulin superfamily cell adhesion molecules (CAMs) that mediate cell-to-cell adhesion at the cell surface. L1CAM is found primarily in the nervous system of several species and may be more aptly called a neural recognition molecule (Kenwrick et al., 2000). Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus) (Yamasaki et al., 1997).
External Information
Click here for more information about the L1CAM whole gene NGS genetic test.Additional information
Samples | EDTA, LA, TB, VC |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 20-30 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | L1CAM |
Related diseases | |Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction|MASA syndrome|SPG1 |
External Information | Click here for more information about the L1CAM whole gene NGS genetic test. |