Joubert Syndrome (JS) and Related Disorders (JSRD) are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia and breathing abnormalities. Cilia play a crucial role in appropriate axonal growth and connectivity which are essential for functional wiring of the brain. The classic midbrain-hindbrain malformation is a hallmark image finding known as molar tooth sign. Joubert Syndrome and Related Disorders are a group of clinically and genetically heterogeneous disorders involving ciliopathy-related genes. Therefore, clinical manifestations have multiorgan involvement, mainly retinal dystrophy, hepatic fibrosis and polydactyly, among others. With the exception of rare X-linked recessive cases, Joubert Syndrome and Related Disorders follow an autosomal recessive inheritance pattern.
The Igenomix Joubert Syndrome and Related Disorders Precision Panel can serve as a screening and diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Joubert Syndrome and Related Disorders Precision Panel is indicated for those patients with clinical and/or imaging findings suggestive of Joubert Syndrome and Related Disorders presenting with the following manifestations:
- Developmental delay
- Abnormal eye and tongue movements
- Respiratory control disturbances
- Cleft lip or palate
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment involving a multidisciplinary team focusing on respiratory and feeding problems in neonates and infants. Cognitive and behavioral assessments with adequate neuropsychological rehabilitation.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
- Identification of molecular defect in couples at risk allowing prenatal genetic tasting where neuroimaging may be uninformative early in the pregnancy.
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