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  • 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
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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.

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Primary panel (16 genes)

ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP

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, +/- 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
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.