• 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



3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16

Associated disorders

The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545) and Bardet-Biedl syndrome (MedGen UID: 393033).

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Order this gene as a single gene test.

CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G.

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Invitae tests that include this gene:

The CEP290 gene, also known as BBS14, encodes a protein that recruits and organizes other cilia proteins at the basal body and transition zone. This protein plays a critical role in ciliogenesis.

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
CEP290* NM_025114.3

*CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G.