LUJAN-FRYNS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes

LabGenetics
Caja de LUJAN-FRYNS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de LUJAN-FRYNS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes

The Lujan-Fryns Syndrome panel is designed to study this X-linked genetic condition, characterized by mild to moderate intellectual disability, dysmorphic facial features, a Marfanoid phenotype, relative macrocephaly, behavioral disturbances, and, in some cases, psychiatric disorders such as autism or schizophrenia. The analysis allows for the identification of mutations in genes involved in transcriptional and synaptic regulation that affect neurodevelopment, contributing to the differential diagnosis with other syndromes within the intellectual disability spectrum. Genes analyzed: MED12, UPF3B, ZDHHC9.

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