• Test code: 04112
  • 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

Invitae Bardet-Biedl Syndrome Panel

Test description

The Invitae Bardet-Biedl syndrome Panel analyzes 16 genes that are associated with Bardet-Biedl syndrome (BBS), which is characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for BBS.


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Primary panel (16 genes)


Alternative tests to consider


  • Bardet-Biedl syndrome (BBS)

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy characterized by childhood-onset of multi-systemic manifestations including obesity, rod-cone dystrophy, polydactyly, situs inversus or 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 ~5.0%
BBS2 ~8.1%
BBS4 ~2.3%
BBS5 Unknown, rare
BBS7 ~1.5%
BBS9 ~6.0%
CEP290 Unknown, rare
MKKS ~5.8%
MKS1 ~4.5%
SDCCAG8 Unknown, rare
TRIM32 Unknown, rare
TTC8 Unknown, rare
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




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
SDCCAG8 NM_006642.3
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.
MKS1: Analysis includes the intronic variant NM_017777.3: c.1408-35_1408-7del.