C19orf49; CRPT2; EGFL4; SBP1
The MEGF8 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 226897).
The MEGF8 gene encodes a protein with an epidermal growth factor-like structure. The function of this protein is currently unclear, however its structure suggests that it may be involved cellular recognition. Functional studies have also suggested that it is involved in intercellular trafficking and chromatin remodeling. The MEGF8 protein has been predicted to be a key player in several developmental processes, such as left-right patterning (PMID: 19218456, 23063620).
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|