Test Directory

Bardet-Biedl syndrome (25 Genes)

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.

Ciliopathies: Primary Ciliary Dyskinesia (39 Genes); Joubert Synd (46 Genes); Bardet-Biedl Syndrome Panel (32 genes)/SeniorLoken Synd (13 genes)

Joubert & Meckel-Gruber syndrome panel, classic (27 Genes)

Joubert and Meckel-Gruber syndrome, extended (32 Genes)

Polydactyly, excl. Bardet-Biedl and Joubert-Meckel (134 Genes)