• Test code: 04112
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • 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.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

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

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Primary panel (16 genes)


Alternative tests to consider

Bardet-Biedl syndrome is a member of a class of disorders called ciliopathies. Ciliopathies share many overlapping symptoms, often making it difficult to distinguish between them based on clinical presentation alone. Depending on the individual’s clinical and family history, the broader Invitae Ciliopathies Panel may be appropriate. It can be ordered at no additional cost.

  • 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

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

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.