Cancer Programme |
Pertinent cancer susceptibility gene panel |
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Cardiovascular disorders |
Arteriopathies |
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Cardiac arrhythmia |
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Cardiomyopathy |
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Congenital heart disease |
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Connective tissue disorders and aortopathies |
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Lymphatic Disorders |
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Pulmonary heart disease |
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Ciliopathies |
Congenital malformations caused by ciliopathies |
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Respiratory ciliopathies |
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Dermatological disorders |
Atopy |
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Autoimmune skin disorders |
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Ectodermal dysplasias |
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Ichthyoses |
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Keratodermas |
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Skin adnexa disorders |
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Skin fragility disorders |
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Sun-exposure related conditions |
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Dysmorphic and congenital abnormality syndromes |
Autophagy disorders |
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DNA repair disorders |
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Dysmorphic disorders |
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Fetal disorders |
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Kabuki |
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Limb disorders |
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RASopathies |
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Endocrine disorders |
Adrenal disorders |
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Disorders of calcium homeostasis |
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Disorders of unusual phenotypes |
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Gonadal and sex development disorders |
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Growth hormone disorders |
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Hypothalamic and pituitary disorders |
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Obesity syndromes |
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Thyroid disorders |
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Endocrinology |
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Gastroenterological disorders |
Gastrointestinal disorders |
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Liver disease |
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Growth disorders |
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders |
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Growth restriction |
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Haematological and immunological disorders |
Haemostasis disorders |
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Haematological disorders |
Anaemias and red cell disorders |
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Haemostasis disorders |
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Primary immunodeficiency disorders |
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Hearing and ear disorders |
Deafness and congenital structural abnormalities |
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Non-syndromic hearing loss |
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Other hearing and ear disorders |
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Metabolic disorders |
Lysosomal storage disorders |
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Mitochondrial |
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Peroxisomal disorders |
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Specific metabolic abnormalities |
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Urea Cycle disorders |
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Neurology and neurodevelopmental disorders |
Cerebrovascular disorders |
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Channelopathies |
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Inherited Epilepsy Syndromes |
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Motor Disorders of the CNS |
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Motor and Sensory Disorders of the PNS |
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Neurodegenerative disorders |
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Neurodevelopmental disorders |
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Neuromuscular disorders |
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Parenchymal brain disorders |
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Sleep disorders |
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White matter disorders |
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Ophthalmological disorders |
Anterior segment abnormalities |
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Ocular malformations |
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Ocular movement disorders |
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Posterior segment abnormalities |
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Renal and urinary tract disorders |
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Disorders of function |
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Structural renal and urinary tract disease |
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Syndromes with prominent renal abnormalities |
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Respiratory disorders |
Interstitial lung disorders |
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Structural lung disorders |
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Vascular lung disorders |
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Rheumatological disorders |
Connective tissues disorders |
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Multi-system inflammatory/autoimmune disorders |
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Skeletal disorders |
Choanal anomalies |
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Craniosynostosis syndromes |
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Skeletal dysplasias |
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Tumour syndromes |
Breast and endocrine |
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Childhood Tumours |
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GI tract |
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Muscle and nerve |
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Skin |
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Tumour syndromes |
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Viral research |
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not grouped |
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