SECKEL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 12 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Seckel Syndrome panel addresses a group of primordial dwarfism syndromes characterized by severe microcephaly, facial dysmorphia with a prominent nose, pre- and postnatal growth retardation, and intellectual disability. These alterations result from defects in genes involved in DNA replication and repair, as well as genome stability. Genetic testing facilitates differential diagnosis with other forms of congenital microcephaly or skeletal dysplasias and allows for accurate genetic counseling. Genes analyzed: ATR, ATRIP, CEP152, PCNT, CENPJ, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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