Rare Disease Genomics

Core phenotype-driven panel for suspected inherited metabolic disease.

Extended metabolic panel for broad or atypical inherited metabolic presentations.

Nuclear-gene causes of mitochondrial disease, including mitochondrial DNA maintenance and OXPHOS assembly defects.

Glycogen storage disorders and related glycogenolytic and glycolytic defects.

Mucopolysaccharidoses and related lysosomal storage disorders.

Inherited cholestatic liver disease and bile-acid synthesis and transport disorders.

Genetic epilepsies, including developmental and epileptic encephalopathies.

Focused panel for non-syndromic genetic epilepsy presentations.

Monogenic and complex parkinsonism, including atypical and early-onset presentations.

Inherited dystonias and dystonia-plus movement-disorder syndromes.

Hereditary ataxias, including spinocerebellar ataxias and ataxia-plus syndromes.

Broad panel for global developmental delay, intellectual disability, autism spectrum disorder and infantile hypotonia.

Hereditary spastic paraplegias and complicated spastic phenotypes.

Congenital myasthenic syndromes and neuromuscular-junction disorders.

Core panel for muscular dystrophies and congenital myopathies.

Extended neuromuscular panel for broad or atypical myopathic presentations.

Hereditary motor and sensory neuropathies of the Charcot–Marie–Tooth spectrum.

Broad panel for inherited and metabolic polyneuropathies.

Congenital, metabolic, distal and myofibrillar myopathies.

Inherited arrhythmia syndromes and conduction disorders.

Long QT syndrome and related repolarisation disorders.

Congenital heart defects and cardiac-development disorders.

Inherited cardiomyopathies, including syndromic and metabolic causes.

Primary hemophagocytic lymphohistiocytosis and related immune-dysregulation syndromes.

Severe combined immunodeficiency and profound T-cell defects.

Broad panel for inborn errors of immunity.

Monogenic autoinflammatory and periodic-fever syndromes.

Inherited thrombocytopenias and platelet-production disorders.

Inherited platelet function and coagulation-factor disorders.

Inherited anemias, including membrane, enzyme and erythropoiesis disorders.

Fanconi anemia and related DNA-repair and inherited bone-marrow-failure disorders.

Severe congenital neutropenia and related bone-marrow-failure phenotypes.

Differences of sex development and gonadal determination disorders.

Hypogonadotropic and hypergonadotropic hypogonadism and related reproductive endocrine disorders.

Monogenic diabetes, including maturity-onset diabetes of the young.

Congenital hypopituitarism and pituitary-development disorders.

Congenital hypothyroidism due to thyroid dysgenesis or dyshormonogenesis.

Monogenic and syndromic obesity, including leptin–melanocortin pathway disorders.

Inherited kidney disease, including cystic, glomerular and tubular disorders.

Genetic surfactant dysfunction disorders and related childhood interstitial lung disease.

Heritable pulmonary arterial hypertension and pulmonary vascular disease.

Primary ciliary dyskinesia and motile-cilia disorders.

Telomere biology disorders and familial pulmonary fibrosis, including associated bone-marrow-failure and malignancy predisposition.

Inherited epidermolysis bullosa and congenital skin-fragility disorders.

Broad panel for inherited skin, hair and nail disorders.

Inherited retinal dystrophies, including retinitis pigmentosa and syndromic forms.

Non-syndromic and syndromic hearing loss and congenital structural ear anomalies.

Skeletal dysplasias, growth-plate disorders and disproportionate short stature.

Heritable connective tissue disease, including aortopathy and Ehlers–Danlos spectrum disorders.

Osteogenesis imperfecta and other inherited disorders of bone fragility.

Cornelia de Lange syndrome and cohesinopathy-spectrum disorders.

RAS–MAPK pathway disorders, including Noonan syndrome and related phenotypes.

Bardet–Biedl syndrome and closely related ciliopathies.

Broad ciliopathy spectrum, including renal, retinal and skeletal ciliopathies.