Reference |
Disease |
|---|---|
| MLP1108 | Ehlers-Danlos syndrome |
| SEQ1105 | Phakomatosis |
| PRE7004 | Tuberous sclerosis |
| SEQ1092 | Phakomatosis |
| SEQ1101 | Hermansky-Pudlak syndrome |
| SEQ9651 | Waardenburg syndrome, syndrome |
| SEQ9661 | Werner syndrome |
| SEQ9301 | Polymorphic catecholaminergic ventricular tachycardia (CPVT) |
| SEQ8492 | Pterygium Syndrome (Lethal Forms) |
| SEQ8493 | Pterygium Syndrome (Lethal Forms) |
| SEQ8471 | Elastic Pseudoxanthoma |
| SEQ8481 | Pustular psoriasis 14 |
| SEQ8491 | Pterygium Syndrome (Lethal Forms) |
| SEQ8401 | Proteus syndrome |
| SEQ8411 | Erythropoietic protoporphyria |
| SEQ8412 | Erythropoietic protoporphyria |
| SEQ8421 | Prune Belly Syndrome |
| SEQ8351 | Cutaneous Porphyria tardive |
| SEQ8361 | Congenital erythropoietic porphyria |
| SEQ8371 | Porphyria variegata |
| SEQ8335 | Polyarteritis nodosa / Sneddon syndrome |
| SEQ8291 | Pycnodysostosis |
| SEQ8311 | Piebaldism |
| SEQ8181 | Parkes Weber syndrome |
| SEQ8101 | Papillon-Lefevre syndrome |
| SEQ7851 | Oto-palato-digital syndrome type 2 |
| SEQ7762 | Omenn syndrome |
| SEQ7763 | Omenn syndrome |
| SEQ7764 | Omenn syndrome |
| SEQ7511 | Nijmegen syndrome |
| SEQ7512 | Nijmegen syndrome |
| SEQ7421 | Neurofibromatosis-like syndromes |
| SEQ7423 | Neurofibromatosis type 2 |
| SEQ7401 | Nail Patella Syndrome |
| SEQ7211 | Mowat-Wilson syndrome |
| SEQ7105 | Marshall-Smith syndrome |
| SEQ7121 | MENKES syndrome |
| SEQ6932 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 1 |
| SEQ6933 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 2 |
| SEQ6934 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 3 |
| SEQ6935 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 4 |
| SEQ6936 | Acquired partial lipodystrophy (Barraquer-Simons syndrome) |
| SEQ6841 | Leopard syndrome |
| SEQ6842 | sg Leopard syndrome |
| SEQ6831 | Legius syndrome (Neurofibromatosis Type 1-like) |
| SEQ6178 | Ichthyosis vulgaris with autosomal dominant transmission |
| SEQ6167 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6169 | Lamellar ichthyosis |
| SEQ6174 | Harlequin fetus congenital ichthyosis |
| SEQ6175 | Superficial epidermolytic ichthyosis |
| SEQ6176 | X-linked ichthyosis |
| SEQ6177 | Ichthyosis vulgaris with autosomal dominant transmission |
| SEQ6161 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6162 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6163 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6164 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6165 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6166 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6151 | Hutchinson-Gilford Progeria |
| SEQ6095 | Focal dermal hypoplasia |
| SEQ6061 | Benign familial hypobetalipoproteinemia |
| SEQ6045 | Hyperhomocysteinemia |
| SEQ6029 | Hyperhomocysteinemia |
| SEQ5982 | Hyper IgE |
| SEQ5981 | Hydroletal Syndrome |
| SEQ5926 | Hermansky-Pudlak syndrome |
| SEQ5927 | Hermansky-Pudlak syndrome |
| SEQ5928 | Hermansky-Pudlak syndrome |
| SEQ5929 | Hermansky-Pudlak syndrome |
| SEQ5930 | Hermansky-Pudlak syndrome |
| SEQ5919 | Neonatal Hemangioma |
| SEQ5921 | Hermansky-Pudlak syndrome type 2 |
| SEQ5922 | Hermansky-Pudlak syndrome |
| SEQ5924 | Hermansky-Pudlak syndrome |
| SEQ5925 | Hermansky-Pudlak syndrome |
| SEQ5751 | Griscelli syndrome type 1 |
| SEQ5741 | Gorlin syndrome |
| SEQ5742 | Gorlin syndrome |
| SEQ5671 | GAPO syndrome |
| SEQ5610 | Phytosterolemia |
| SEQ5651 | Galactosialidosis |
| SEQ5571 | Juvenile hyaline fibromatosis |
| SEQ5501 | Fabry disease |
| SEQ5265 | Tuberous sclerosis |
| SEQ5266 | Tuberous sclerosis |
| SEQ5267 | Tuberous sclerosis |
| SEQ5212 | Primary erythermalgia |
| SEQ5213 | Primary erythermalgia |
| SEQ5231 | Bullous ichthyosiform congenital erythroderma |
| SEQ5232 | Bullous ichthyosiform congenital erythroderma |
| SEQ5241 | Variable erythrokeratoderma, Mendes da Costa type |
| SEQ5211 | Primary erythermalgia |
| SEQ5111 | Junctional Epidermolysis Bullosa with Pyloric Atresia |
| SEQ5112 | Simple Epidermolysis Bullosa |
| SEQ5121 | Simple Epidermolysis Bullosa with Muscular Dystrophy |
| SEQ5093 | Dystrophic Epidermolysis Bullosa |
| SEQ5103 | Junctional Epidermolysis Bullosa |
| SEQ5104 | Junctional Epidermolysis Bullosa |
| SEQ5105 | Junctional Epidermolysis Bullosa |
| SEQ5106 | Junctional Epidermolysis Bullosa |
| SEQ5082 | Epidermodysplasia verruciformis |
| SEQ5083 | Epidermodysplasia verruciformis |
| SEQ4871 | Ehlers-Danlos type VIIC |
| SEQ4872 | Ehlers-Danlos syndrome Musculocontractural type |
| SEQ4866 | Ehlers-Danlos Syndrome Type III |
| SEQ4867 | Ehlers-Danlos Syndrome Type III |
| SEQ4868 | Ehlers-Danlos Syndrome Type III |
| SEQ4869 | Ehlers-Danlos Syndrome Type IV (vascular) |
| SEQ4870 | Ehlers-Danlos syndrome type VI |
| SEQ4851 | Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3) |
| SEQ4861 | Ehlers-Danlos syndrome CLASSIC TYPE |
| SEQ4862 | Ehlers-Danlos syndrome |
| SEQ4863 | Ehlers-Danlos syndrome type I / type II (classic) |
| SEQ4864 | Ehlers-Danlos syndrome type I / type II (classic) |
| SEQ4865 | Ehlers-Danlos syndrome type I / type II (classic) |
| SEQ4345 | Congenital dyskeratosis |
| SEQ4346 | Congenital dyskeratosis |
| SEQ4347 | Congenital dyskeratosis |
| SEQ4348 | Congenital dyskeratosis |
| SEQ4341 | Congenital dyskeratosis |
| SEQ4342 | Congenital dyskeratosis |
| SEQ4343 | Congenital dyskeratosis |
| SEQ4344 | Congenital dyskeratosis |
| SEQ4279 | X-linked Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine syndrome |
| SEQ4271 | Ectodermal Dysplasia |
| SEQ4272 | Ectodermal dysplasia - ectrodactyly - macular dystrophy (EEM syndrome) |
| SEQ4273 | Ectodermal Dysplasia 2, Clouston type |
| SEQ4275 | Autosomal Anhydrotic Ectodermal Dysplasia |
| SEQ4276 | Autosomal Anhydrotic Ectodermal Dysplasia |
| SEQ4277 | Anhidrotic Ectodermal Dysplasia with immune deficiency |
| SEQ4012 | Desbuquois syndrome |
| SEQ3561 | Interleukin 1 receptor antagonist deficiency |
| SEQ3461 | Biotinidase deficiency |
| SEQ3132 | Crouzon Syndrome with Acanthosis Nigricans |
| SEQ3141 | Crouzon syndrome, syndrome |
| SEQ3351 | Darier's disease |
| SEQ3131 | Crouzon syndrome with Acanthosis Nigricans, mutation p.Ala391Glu FGFR3 gene |
| SEQ3081 | Costello syndrome |
| SEQ2921 | Cockayne syndrome |
| SEQ2922 | Cockayne syndrome |
| SEQ2923 | Cockayne syndrome |
| SEQ2861 | Cinca Syndrome (Childhood Multisystemic Inflammatory Disease) |
| SEQ2831 | Chediak-Higashi syndrome |
| SEQ2681 | Canavan disease |
| SEQ2691 | Cantú syndrome |
| SEQ2431 | Bruck syndrome |
| SEQ2601 | C syndrome |
| SEQ2421 | BRESEK syndrome |
| SEQ2381 | Branchial-oculo-facial syndrome |
| SEQ2341 | Blau syndrome |
| SEQ2311 | Síndrome de Birt-Hogg-Dube, mutaciones c.1285delC y c.1285dupC gen FLCN Birt-Hogg-Dube syndrome, c.1285delC and c.1285dupC mutations FLCN gene |
| SEQ2312 | Birt-Hogg-Dube syndrome |
| SEQ2241 | Bardet-Biedl syndrome type 1 |
| SEQ2233 | Bardet-Biedl syndrome type 13 |
| SEQ2027 | Autosomal dominant cutis laxa type 2B |
| SEQ2028 | Autosomal dominant cutis laxa type 3A |
| SEQ2021 | Autosomal dominant cutis laxa type 1 |
| SEQ2022 | Autosomal dominant cutis laxa type 2 |
| SEQ2024 | Autosomal dominant cutis laxa type 1B |
| SEQ2025 | Autosomal dominant cutis laxa type 1C |
| SEQ2026 | Autosomal dominant cutis laxa type 2A |
| SEQ2015 | Familial autoinflammatory type Behcer-likem syndrome |
| SEQ1831 | Pyogenic arthritis, pyoderma gangrenosum, acne |
| SEQ1781 | Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing |
| SEQ1711 | Hereditary Angioedema |
| SEQ1712 | Hereditary Angioedema |
| SEQ1471 | Alpha-Thalassemia |
| SEQ1491 | Glycogen storage due to muscle phosphofructokinase deficiency |
| SEQ1412 | Albinism isolated and syndromic forms |
| SEQ1414 | Oculocutaneous albinism type 2 |
| SEQ1392 | Hereditary angioedema |
| SEQ1351 | Adams-Oliver syndrome |
| SEQ1352 | Adams-Oliver syndrome |
| SEQ1356 | Adams-Oliver syndrome |
| SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
| SEQ1059 | Neurofibromatosis |
| MLP3431 | Tricho-rhino-phalangeal syndrome type 1 / Langer-Giedion syndrome |
| MLP3550 | Waardenburg syndrome |
| MLP3401 | Hereditary hemorrhagic telangiectasia, Primary pulmonary hypertension |
| MLP3031 | Pseudoxanthoma elasticum |
| MLP3021 | Porphyrias |
| MLP2743 | Neurofibromatosis type 2 |
| MLP2741 | Neurofibromatosis type 1 |
| MLP2742 | Neurofibromatosis type 1 |
| MLP2701 | Nail Patella syndrome |
| MLP2561 | Menkes syndrome |
| MLP2542 | Marfan syndrome |
| MLP2205 | Mediterranean fever family |
| MLP2151 | Hyper-IgE syndrome |
| MLP2201 | X-linked ichthyosis |
| MLP2001 | Gorlin syndrome |
| MLP1831 | Tuberous sclerosis 1 |
| MLP1832 | Tuberous sclerosis 2 |
| MLP1870 | Fabry disease |
| MLP1801 | Ehlers-Danlos type III syndrome |
| MLP1802 | Ehlers Danlos type VI syndrome |
| MLP1671 | Branchio-oto-renal dysplasia |
| MLP1231 | Birt-Hogg-Dube syndrome |
| MLP1031 | Oculocutaneous albinism type II |
| EXN1167 | Lymphatic Malformations and Related Diseases |
| EXN1162 | Epidermolysis Bullosa |
| EXN1138 | Progeria and Progeroid syndromes |
| EXN1127 | Waardenburg syndrome |
| EXN1107 | Albinism |
| EXN1110 | Hermansky‐Pudlak syndrome |
| EXN1094 | Cutis laxa |
| EXN1098 | Connective tissue diseases |
| EXN1063 | Ectodermal dysplasias |
| EXN1047 | Hyperimmunoglobulin E syndrome |
| EXN1041 | Hereditary Hemorrhagic Telangiectasia |
| EXN1031 | Joint hypermobility |
| EXN1023 | Congenital ichthyosis |
| EXN1017 | Trichohepatoenteric syndrome |
| SEQ references correspond to studies performed using NIMSeq® | |
| EXN references correspond to studies performed using ExoNIM® | |
To consult the genes associated with each approach and the complete catalog of services, go to our genetics test search tool
