Cardiology – a number of panels available covering different cardiological disorders, including cardiomyopathy.
Dermatology – panels available for many genetic dermatological diseases.
Hearing loss – a comprehensive panel covering syndromic and non-syndromic causes of deafness.
Endocrinology – a number of panels available related to endocrine disorders, such as MODY, DSDs, etc.
Metabolic disorders – a comprehensive panel covering metabolic diseases.
Nephrology, pulmonology and ciliopathies – a number of panels available covering diseases of the lungs and kidneys.
Gastroenterology – for diseases such as cholestasis and other genetic gastroenterological disorders.
Haematology – covers inherited haematological disorders such as bone marrow failure and bleeding disorders.
Immunology – includes many genes related to primary immunodeficiency.
Malformations – covers skeletal and non-skeletal malformations, such as osteogenesis imperfecta, craniosynostosis, dwarfism, etc.
Neurology – a number of panels available, for muscular dystrophy, epilepsy, ataxia, autism, etc.
Ophthalmology – panels covering a range of genetic eye disorders, such as retinal dystrophy, retinitis pigmentosa, etc.cancer)