Test Code: PNL021
Bardet-Biedl syndrome (25 Genes)
Nephrology
Bardet‑Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterised by multisystem involvement, most notably affecting vision and kidney function, with possible impact on the heart, liver, and digestive system. Common clinical features include obesity, intellectual disability, hypogonadism, and polydactyly. The estimated incidence is approximately 1 in 100,000. To date, mutations in around 25 genes have been identified, with BBS1 and BBS10 being the most frequent, accounting for ~51% and ~20% of cases, respectively.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
25 genes
ALMS1
ARL6
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
C8orf37
CCDC28B
CEP290
IFT27
IFT74
IFT172
LZTFL1
MKKS
MKS1
MKS3
SDCCAG8
TRIM32
TTC8
WDPCP
Methodology
Capture-based target enrichment and Next Generation Sequencing
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