BAFOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 35 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Baphopathies panel analyzes 35 genes associated with syndromes in the BAF complex defect spectrum (BFID/BFD), a group of developmental disorders characterized by psychomotor delay, intellectual disability, facial dysmorphisms, hypotonia, skeletal abnormalities, and congenital malformations. These syndromes include conditions such as Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, and other chromatin remodeling disorders. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of alterations in genes involved in epigenetic regulation, gene transcription, and chromatin organization, which are fundamental for embryonic development. Among the most relevant genes included are ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, SOX11, ACTB, and ADNP, among others. The complete list of genes can be obtained by contacting Genotica.
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