JOUBERT SYNDROME (JBTS): CLINICAL EXOME PANEL (Sec. & CNVs) – 55 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Joubert syndrome is a developmental disorder of the brainstem and cerebellum characterized by the radiographic "molar tooth" sign, neonatal hypotonia, ataxia, oculomotor abnormalities, respiratory difficulties, and developmental disability. This panel detects variants in genes associated with ciliopathies, as most forms of Joubert syndrome result from primary cilium dysfunction. It includes genes involved in intracellular transport, ciliary structure, and signaling during embryonic development, encompassing both syndromic (with renal, hepatic, or retinal involvement) and non-syndromic forms. Genes analyzed include: AHI1, CEP290, TMEM67, CC2D2A, ARL13B, and others. For a complete list of analyzed genes, please contact Genotica.
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