Genetic Testing for Dysplasias

Detects genetic variants associated with congenital gastrointestinal atresias.

Detects genetic variants associated with severe growth delay, primordial dwarfism and microcephaly

Detects genetic variants associated with skin aplasia and congenital limb anomalies.

Detects genetic variants associated with disorders of tooth development and structure

Detects genetic variants associated with congenital joint contractures and reduced fetal movement

Detects genetic variants associated with congenital digit anomalies and limb development disorders

Detects genetic variants associated with cerebral cavernous malformations and related neurological symptoms

Detects genetic variants associated with skeletal dysplasias and impaired cartilage and bone development

Detects genetic variants associated with cleft lip/palate and congenital craniofacial anomalies

Detects genetic variants associated with Cornelia de Lange syndrome and developmental disorders

Detects genetic variants associated with premature cranial suture fusion and abnormal skull development

Detects genetic variants associated with multiple exostoses and abnormal bone growth

Detects genetic variants associated with craniofacial dysostosis and abnormal facial development

Detects genetic variants associated with growth disorders, short stature and skeletal dysplasias

Detects genetic variants associated with laterality disorders and abnormal arrangement of internal organs

Detects genetic variants associated with congenital intestinal obstruction.

Detects genetic variants associated with forebrain malformations and craniofacial abnormalities

Detects genetic variants associated with hypophosphatemic rickets and skeletal deformities

Detects genetic variants associated with Kabuki syndrome and multisystem developmental abnormalities

Detects genetic variants associated with congenital limb malformations and developmental abnormalities

Detects genetic variants associated with lissencephaly and abnormalities of cortical brain development

Detects genetic variants associated with lymphatic malformations and abnormal development of the lymphatic system

Detects genetic variants associated with macrocephaly, overgrowth and neurodevelopmental disorders

Detects genetic variants associated with primordial dwarfism and severe growth delay

Detects genetic variants associated with metaphyseal dysplasias and abnormalities of bone development

Detects genetic variants associated with brain development disorders and neurodevelopmental dysfunction

Detects genetic variants associated with micromelic dysplasias and limb shortening with growth abnormalities

Detects genetic variants associated with neuronal migration disorders and cortical malformations

Detects genetic variants associated with bone fragility, fractures and skeletal deformities

Detects genetic variants associated with increased bone density and disorders of bone remodeling

Detects genetic variants associated with polymicrogyria and cortical malformations

Detects genetic variants associated with primordial dwarfism, microcephaly and severe growth delay

Detects genetic variants associated with septo-optic dysplasia and abnormalities of vision, pituitary, brain

Detects genetic variants associated with thoracic dysplasia, short ribs and respiratory distress

Detects genetic variants associated with short stature and growth disorders

Detects genetic variants associated with abnormal mineral deposition in bones and teeth

Detects genetic variants associated with skeletal dysplasias and disorders of bone and cartilage development

Detects genetic variants associated with skeletal dysplasias, bone abnormalities and disproportionate short stature

Detects genetic variants associated with spinal skeletal dysplasias and abnormal bone growth

Detects genetic variants associated with vascular malformations and abnormal blood vessel development