The CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817).
Order this gene as a single gene test.
Invitae tests that include this gene:
CRYBA1 gene encodes beta-crystallin A1 protein. In the eye, crystallins are water soluble structural proteins accounting for 90% of lens proteins. Crystallins form protein-protein complexes with each other and with other crystallin proteins. These aggregates are crucial for the maintenance of lens clarity and refractive index/focusing of light by the lens. A key feature of beta crystallins is “Greek motif” important for protein folding. Beta crystallins function as homo and heteromultimers and are crucial for maintaining refractive index of the lens (PMID: 17166758).
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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|