Test Code: PNL021

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 (25 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
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.