SECKEL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 12 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Seckel syndrome is a type of autosomal recessive primordial dwarfism characterized by severe microcephaly, pre- and postnatal growth retardation, distinctive facial features (“bird-like face”), and intellectual disability of varying degrees. In some cases, skeletal, hematological, or immunological abnormalities may be present. The most frequent genetic causes affect genes involved in DNA replication and repair, as well as in cell cycle control, which are essential for normal embryonic development. This panel allows for the identification of the molecular basis of the syndrome, differentiation from other types of primordial dwarfism, and guidance for clinical and reproductive management. Genes analyzed: ATR, ATRIP, CENPE, CENPJ, CEP152, CEP63, DNA2, LIG4, NIN, PCNT, PLK4, RBBP8.
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