MICRO WARBURG-SJÖ-FLEDELIUS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Micro or Warburg-Sjö-Fledelius Syndrome panel analyzes a set of genes associated with microcephaly, cerebral hypoplasia, microphthalmia, congenital cataracts, and severe developmental delay. These conditions, which affect vesicular trafficking processes and neuronal and ocular differentiation, can overlap with other congenital neuro-ocular syndromes. Genetic testing facilitates an accurate etiological diagnosis, essential for clinical management and family counseling. Genes analyzed: RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, ALDH18A1, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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