Invitae Bardet-Biedl Syndrome Panel


Test description

The Invitae Bardet-Biedl Syndrome Panel analyzes 15 genes that are associated with Bardet-Biedl syndrome (BBS). These genes are involved in the structure of cilia, which are the hairlike structures on the surface of cells. Cilia are necessary for proper cellular motility, for the movement of material around a cell, and for chemical signaling pathways. Pathogenic variants in these genes impair the function of cilia and are described as a class of pediatric developmental disorders known as ciliopathies.

Identification of the molecular basis of disease in an affected individual may confirm diagnosis and encourage testing of additional family members to inform reproductive risk.

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Primary panel (15 genes)


BBS9: Deletion/duplication analysis is not offered for exon 4
CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G.

Alternative tests to consider

Bardet-Biedl syndrome is a member of a class of disorders called ciliopathies. Ciliopathies are caused by pathogenic variants in genes that affect the function of cilia—the hair-like structures on the surface of cells. Ciliopathies share many overlapping symptoms, often making it difficult to distinguish between them based on clinical presentation alone.

The Invitae Sensory Ciliopathies panel has been designed to provide a broad genetic analysis of this class of disorders and may be considered as an alternative to testing for a specific disorder. Depending on the individual’s clinical and family history, this broader panel may be appropriate. It can be ordered at no additional cost.

Bardet-Biedl syndrome (BBS)

Bardet-Biedl syndrome (BBS) is a progressive multisystemic disorder that begins to manifest in early childhood. Individuals with BBS can present with a variety of symptoms, including obesity, rod-cone dystrophy, polydactyly, laterality disorders (e.g., situs inversus, heterotaxy), kidney dysfunction, and cognitive impairment. Affected individuals often also present with hypogonadism, which can lead to genital abnormalities.

This panel is expected to identify variants in greater than 77% of individuals with a clinical diagnosis of Bardet-Biedl syndrome (BBS).

Gene% of BBS attributed to pathogenic variants in each gene
ARL6 Unknown, rare
BBS1 ~23.2%
BBS10 ~20%
BBS12 ~5%
BBS2 ~8.1%
BBS4 ~2.3%
BBS5 Unknown, rare
BBS7 ~1.5%
BBS9 ~6.0%
CEP290 Unknown, rare
MKKS ~5.8%
MKS1 ~4.5%
TRIM32 Unknown, rare
TTC8 ~1.2%
WDPCP Unknown, rare

BBS is inherited in an autosomal recessive pattern.

BBS is a highly penetrant condition with widely variable clinical expressivity, even among members of the same family.

BBS occurs in an estimated 1 in 100,000 to 1 in 160,000 births in non-consanguineous North American and European populations. In the Newfoundland population, occurrence is higher due to a founder effect and prevalence is an estimated 1 in 17,500 births. Prevalence is higher in the Bedouin population of Kuwait due to high rates of consanguinity and is estimated at 1 in 13,500.

This test is appropriate for determining the molecular cause of disease in individuals with a clinical diagnosis or differential diagnosis of Bardet-Biedl syndrome (BBS) or in whom the diagnosis is suspected.

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, 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
ARL6 NM_177976.2
BBS1 NM_024649.4
BBS10 NM_024685.3
BBS12 NM_152618.2
BBS2 NM_031885.3
BBS4 NM_033028.4
BBS5 NM_152384.2
BBS7 NM_176824.2
BBS9* NM_198428.2
CEP290* NM_025114.3
MKKS NM_018848.3
MKS1 NM_017777.3
TRIM32 NM_012210.3
TTC8 NM_198309.3
WDPCP NM_015910.5

BBS9: Deletion/duplication analysis is not offered for exon 4
CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G.