Asper Dysmorphology

Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Brain malformations UPDATED
Cornelia de Lange Syndrome
Ehlers-Danlos Syndrome
Frazer Syndrome
Joubert Syndrome
Noonan Spectrum Disorders/Rasopathies
Osteogenesis Imperfecta
Skeletal Ciliopathies
Skeletal Dysplasia
Smith-Lemli-Opitz Syndrome
Whole Exome Sequencing

Asper 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.

Asper 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.