Brain malformations UPDATED
Noonan Spectrum Disorders/Rasopathies
Whole Exome Sequencing
SLN Dysmorphology embraces congenital abnormalities associated tests. Abnormalities may include congenital malformations and dysplasias, often with delayed motor and cognitive development. Congenital malformations can vary from isolated, mild findings to severe congenital anomalies and/or may be part of a particular syndrome.
As accurate diagnosis of congenital malformations and associated syndromes is a key challenge, the identification of congenital abnormalities at molecular level can ease the process significantly and provide information about the long-term prognosis.
SLN Dysmorphology gene panels are comprehensive, with wide range of genes involving the utmost of different phenotypes and subtypes of disorders. We provide panels to detect genetic basis of craniofacial features, growth abnormalities, organ specific diseases, as well as malformations with involvement of various organ systems.