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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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CRYBB1

Alias

CATCN3; CTRCT17

Associated disorders

The CRYBB1 gene is associated with autosomal dominant congenital cataracts (PMID: 18432316) and autosomal recessive congenital cataracts (MedGen UID: 370592).

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CRYBB1

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Invitae tests that include this gene:

CRYBB1 gene encodes beta-crystallin B1 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. The stability of beta crystallin multimers is thought to be crucial for maintaining refractive index of the lens (PMID: 17166758).

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 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
CRYBB1 NM_001887.3