SOTOS SYNDROME AND RELATED SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes

LabGenetics
Caja de SOTOS SYNDROME AND RELATED SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de SOTOS SYNDROME AND RELATED SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes

The Sotos Syndrome panel evaluates the genetic alterations responsible for pre- and postnatal excessive growth, macrocephaly, characteristic facial features, and psychomotor delay. It also encompasses other overgrowth conditions with overlapping phenotypes. Pathogenic variants in genes regulating chromatin and transcription are responsible for dysmorphogenesis and excessive growth. Molecular analysis allows for confirmation of the clinical diagnosis, establishment of the prognosis, and facilitation of family counseling. Genes analyzed: NSD1, EZH2, NFIX, GPC3.

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