Reference |
Disease |
|---|---|
| SEQ1341 | Acrodysostosis 1 and 2, with or without hormonal resistance |
| EXN1169 | Amelogenesis Imperfect and Dentinogenesis Imperfect |
| EXN1051/SEQ1373 | Arthrogryposis |
| EXN1144 | VACTERL/VATER association and syndromes included in the differential diagnosis |
| SEQ1374 | Gastrointestinal atresia |
| EXN1170 | Brachydactyly and Syndactyly |
| SEQ2992 | Chondrodysplasia punctata |
| EXN1006/SEQ3101 | Craniosynostosis |
| EXN1064/SEQ4440 | Facial dysstasis |
| SEQ4265 | Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia |
| SEQ4271 | Ectodermal Dysplasia |
| SEQ4307 | Spondylometaphyseal dysplasia |
| EXN1034 | Bone dysplasias |
| SEQ4308 | Skeletal dysplasia with abnormal mineralization |
| EXN1171 | Metaphyseal dysplasia |
| EXN1124/SEQ4329 | Septo-optic dysplasia |
| SEQ4341 | Congenital dyskeratosis |
| SEQ7413 | Nasu-Hakola disease / Polycystic lipomembranous osteodysplasia with sclerotic leukoencephalopathy |
| EXN1088 | Cleft lip and cleft palate |
| SEQ5948 | Heterotaxia and situs inversus |
| SEQ6115 | Holoprosencephaly |
| SEQ6985 | Lissencephaly |
| EXN1082 | Limb malformations |
| EXN1038 | Microcephaly and pontocerebellar hypoplasia |
| EXN1061/SEQ7791 | Imperfect osteogenesis |
| SEQ7836 | Osteopetrosis and High Bone Density Diseases |
| SEQ7831 | Osteopetrosis, autosomal recessive type 5 |
| SEQ8343 | Polymicrogyria |
| EXN1135/SEQ8415 | Preauricular bulge |
| SEQ7531 | Rasopathies (Noonan Syndrome included) |
| SEQ6606 | Kabuki syndrome |
| EXN1101/SEQ1356 | Adams-Oliver syndrome |
| EXN1090/SEQ1095 | Bardet-Biedl syndrome |
| SEQ2922 | Cockayne syndrome |
| EXN1054 | Coffin-Siris syndrome |
| SEQ3061 | Cornelia de Lange syndrome |
| EXN1005 | Cornelia de Lange syndrome |
| EXN1037/SEQ4598 | Donnai-Barrow syndrome |
| EXN1110/SEQ1101 | Hermansky-Pudlak syndrome |
| EXN1121 | Jarcho Levin syndrome |
| EXN1022 | Kabuki syndrome |
| EXN1160/SEQ6615 | Klippel-Feil syndrome |
| EXN1116/SEQ7125 | Meckel syndrome |
| EXN1172 | Micro or Warburg-Sjo-Fledelius syndrome |
| EXN1093 | Angelman syndrome and and syndromes included in the differential diagnosis |
| EXN1062/SEQ8930 | Robinow syndrome |
| EXN1055/SEQ8960 | Rubinstein-Taybi syndrome |
| SEQ8980 | Seckel syndrome |
| EXN1044/SEQ9055 | Sotos syndrome and related syndromes |
| EXN1148 | Orofaciodigital syndromes |
| SEQ7421 | Neurofibromatosis-like syndromes |
| EXN1091 | Overgrowth and macrocephaly |
| EXN1106 | Short stature |
| EXN1016 | Congenital Disorders of Brain Morphogenesis |
| SEQ references correspond to studies performed using NIMSeq® | |
| EXN references correspond to studies performed using ExoNIM® | |
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