Detects genetic variants associated with bone marrow failure, cytopenia and increased cancer risk
Detects genetic variants associated with epilepsy, seizures and neurodevelopmental disorders
Detects genetic variants associated with growth disorders, short stature and skeletal dysplasias
Detects genetic variants associated with hereditary hearing loss and deafness of the auditory system.
Detects genetic variants associated with macrocephaly, overgrowth and neurodevelopmental disorders
Detects genetic variants associated with congenital heart defects and features of Noonan syndrome.
Detects genetic variants associated with immune dysfunction and chronic respiratory system disorders
Detects genetic variants associated with inherited retinal dystrophies causing vision loss or blindness
Detects genetic variants associated with short stature and growth disorders