- Cardiac: Familial Hypercholesterolaemia, Familial Arrhythmias (Long QT, Brugada syndrome, AF), Unexplained Cardiac Arrest / VT/ VF, Familial or Congenital Bradycardia, Cardiomyopathies, Congenital heart malformations, Sudden Unexplained or Cardiac Deaths.
- Cancers: Breast, Ovarian, Bowel, Pancreatic, Thyroid, Adrenal, Kidney, Multiple Endocrine Neoplasia, Childhood cancer syndromes.
- Childhood: Developmental, Syndromic or Growth disorders, Intellectual disability, Autism.
- Chromosomal disorders: Klinefelter and Turner syndromes, translocations, unbalanced chromosome rearrangements, trisomy.
- Connective tissue: Aortic dilation or dissection, Marfan Syndrome, the Ehlers Danlos syndromes, Loeys Dietz syndrome.
- Deafness: congenital or familial.
- Dermatological: Epidermolysis Bullosa, Vascular/lymphatic malformations, Ectodermal dysplasias, DNA repair defects, Neurocutaneous disorders.
- Eye: Hereditary retinopathies, Retinitis Pigmentosa.
- Endocrine: Congenital Adrenal Hypo and Hyperplasia, Familial Hypercalciuric Hypocalcaemia, Pseudohypoparathyroidism
- Genetic results: Interpretation of chromosome microarray or sequencing results.
- Muscular dystrophy or myopathy at all ages: Duchenne, Limb Girdle, FSHD, Myotonic Dystrophy, Myotonia Congenita.
- Metabolic: Enzyme deficiencies, Mitochondrial disorders.
- Neurological: Ataxias, Familial Epilepsy, Hereditary motor and sensory neuropathies (Charcot Marie Tooth), Leukodystrophies, Motor neurone disease, Huntington disease, Familial Dementias, Movement disorders, Periodic paralyses.
- Pregnancy planning: preconception carrier screening, advice about personal or family medical history, fetal loss with genetic anomalies.
- Rare Disorders: Hereditary Haemorrhagic Telangiectasia, Tuberous Sclerosis, Neurofibromatosis, Familial Cerebral Cavernous Haemangiomas, Ataxia Telangiectasia,
- Renal: Polycystic kidney disease, Alport syndrome, Familial glomerulonephritis, Familial Nephrotic Syndrome.
- Respiratory: Cystic Fibrosis, Pulmonary Arterial Hypertension, Alpha-1-antitrypsin Deficiency.
- Skeletal Dysplasias, Osteogenesis Imperfecta (Brittle bone disease), Hereditary Exostoses.