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Table 1 Clinical sensitivities

From: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Gene panel type Total patients run Overall clinical sensitivity Selected subgroup clinical sensitivity
Cardiovascular 243 28 % Cardiomyopathy 32 %
Congenital heart disease 10 %
Arrhythmias 31 %
Aneurysms 29 %
Deafness 147 54 % Hearing loss -
Dermatology 68 62 % Various dermatological features -
Dysmorphology-Dysplasia 354 38 % Skeletal dysplasia 45 %
Dysmorphism 32 %
Endocrinology 36 61 % Pituitary and thyroid disorders -
Gastroenterology 73 29 % Persistent jaundice -
Hematology 33 24 % Aplastic anemia -
Inborn errors of metabolism 122 59 % Metabolic disorders -
Neurology 524 40 % Syndromic DD/ID (recognizable syndromes) 47 %
Syndromic DD/ID NYD (not yet determined, unrecognizable syndrome) 25 %
Structural brain (cerebral/cerebellar/brain stem) and spinal malformations/anomaliesa 34 %
Non-syndromic DD/ID NYD (not yet determined, unrecognizable)b 11 %
Neurodegenerative disorders 42 %
Coordinationc/movement disorders 69 %
Peripheral neuropathy 33 %
Myopathies/joint abnormalitiesd 56 %
PID 196 37 % Primary immunodeficiency disorders -
Pulmonology 36 36 % Chronic lung infection suspected cystic fibrosis -
Renal 107 57 % Glomerular/tubular disorders 41 %
Cystic kidney disease 63 %
Kidney malformation 69 %
Vision 418 52 % Retinal dystrophy (syndromic, non-syndromic, RP, CRD, macular dystrophy, FEVR, GFS) 65 %
Cataract (syndromic and non-syndromic) 34 %
Aniridia 33 %
Microphthalmia/anophthalmia (with and without coloboma) 30 %
Corneal dystrophy (CHED and all other subtypes) 40 %
Others 23 %
  1. aPrimary microcephaly cases are included in this group
  2. bNon-syndromic cases of autism/mental disorder and epilepsy are included under this group
  3. cAtaxia cases secondary to cerebellar hypoplasia are included under the structural brain abnormalities group
  4. dCases with arthrogryposis multiplex syndromes are included under the myopathies group
  5. CHED corneal hereditary endothelial dystrophy, CRD cone-rod dystrophy, DD developmental delay, FEVR familial exudative vitreoretinopathy, GFS Goldmann-Favre syndrome, ID intellectual disability, NYD not yet determined, PID primary immunodeficiency, RP retinitis pigmentosa