KABUKI / KABUKI-LIKE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Kabuki syndrome is a developmental disorder characterized by distinctive facial features, growth retardation, varying degrees of intellectual disability, skeletal abnormalities, and congenital heart defects. It can also include immunodeficiency, hypotonia, and endocrine abnormalities. This panel analyzes genes involved in epigenetic regulation and chromatin remodeling, particularly those related to the KMT2D and KDM6A complexes, which are responsible for the majority of cases. Molecular detection confirms the clinical diagnosis and allows differentiation of "Kabuki-like" forms associated with other genes that have a similar phenotype. Genes analyzed: KMT2D, KDM6A, CHD7, ANKRD11, KMT2A, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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