VACTERL/VATER ASSOCIATION AND DIFFERENTIAL: CLINICAL EXOME PANEL (Sec. & CNVs) – 98 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Designed for the study of multiple malformations with varying combinations of vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects, and their differential diagnosis (ciliary disorders, Fanconi syndrome, cohesinopathies, Hedgehog/Notch pathways). It facilitates risk stratification for recurrence and coordinates multidisciplinary management. Genes analyzed: FANCA, FANCG, RECQL4, NIPBL, CHD7, PTEN, SHH, GLI3, CC2D2A, RERE, and others. You can consult the complete list of analyzed genes by contacting Genotica.