Reference |
Disease |
|---|---|
| SEQ1396 | - |
| MLP1022 | Hemolytic uremic syndrome |
| SEQ1101 | Hermansky-Pudlak syndrome |
| SEQ9380 | Von Hippel Lindau |
| SEQ9316 | Thrombophilia |
| SEQ9318 | Neurodevelopmental disorder with hypotonia, seizures, and absence of language |
| SEQ9320 | Prothrombin |
| SEQ9314 | Thrombophilia |
| SEQ9301 | Polymorphic catecholaminergic ventricular tachycardia (CPVT) |
| SEQ9307 | Treacher-Collins syndrome 1 |
| SEQ9311 | Thrombophilia, 20210G> A FII gene mutations, 1691G> A FV gene mutation; c.677C> T and c.1298A> C mutations MTHFR gene, 5G / 4G -5`UTR gene PAI1 mutation |
| SEQ9312 | Thrombophilia |
| SEQ9313 | Thrombophilia |
| SEQ8411 | Erythropoietic protoporphyria |
| SEQ8412 | Erythropoietic protoporphyria |
| SEQ8361 | Congenital erythropoietic porphyria |
| SEQ8335 | Polyarteritis nodosa / Sneddon syndrome |
| SEQ8281 | Peutz-Jeghers syndrome |
| SEQ8247 | Hereditary persistence of fetal hemoglobin- Beta-Thalassemia |
| SEQ7536 | Noonan syndrome |
| SEQ7537 | Noonan syndrome |
| SEQ7541 | Noonan-like syndrome with deciduous anagen hair |
| SEQ7542 | Noonan-like syndrome with or without juvenile myelomonocytic leukemia |
| SEQ7532 | Noonan syndrome |
| SEQ7533 | Noonan syndrome |
| SEQ7534 | Noonan syndrome |
| SEQ7535 | Noonan syndrome |
| SEQ7511 | Nijmegen syndrome |
| SEQ7512 | Nijmegen syndrome |
| SEQ6994 | Glomuvenous malformations |
| SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6045 | Hyperhomocysteinemia |
| SEQ6029 | Hyperhomocysteinemia |
| SEQ5961 | X-linked periventricular heterotopia |
| SEQ5926 | Hermansky-Pudlak syndrome |
| SEQ5927 | Hermansky-Pudlak syndrome |
| SEQ5928 | Hermansky-Pudlak syndrome |
| SEQ5929 | Hermansky-Pudlak syndrome |
| SEQ5930 | Hermansky-Pudlak syndrome |
| SEQ5917 | Atypical Hemolytic Uremic Syndrome |
| SEQ5921 | Hermansky-Pudlak syndrome type 2 |
| SEQ5922 | Hermansky-Pudlak syndrome |
| SEQ5924 | Hermansky-Pudlak syndrome |
| SEQ5925 | Hermansky-Pudlak syndrome |
| SEQ5914 | Hemophilia AB |
| SEQ5915 | Hemoglobinopathy D |
| SEQ5610 | Phytosterolemia |
| SEQ5511 | Factor V (Leiden) |
| SEQ5221 | Familial erythrocytosis |
| SEQ5071 | Pulmonary veno-occlusive disease |
| SEQ5072 | Pulmonary veno-occlusive disease |
| SEQ4884 | Hereditary elliptocytosis |
| SEQ4891 | Emberger syndrome |
| SEQ4881 | Hereditary elliptocytosis |
| SEQ4882 | Hereditary elliptocytosis |
| SEQ4883 | Hereditary elliptocytosis |
| SEQ4556 | Hemolytic uremic syndrome |
| SEQ4345 | Congenital dyskeratosis |
| SEQ4346 | Congenital dyskeratosis |
| SEQ4347 | Congenital dyskeratosis |
| SEQ4348 | Congenital dyskeratosis |
| SEQ4341 | Congenital dyskeratosis |
| SEQ4342 | Congenital dyskeratosis |
| SEQ4343 | Congenital dyskeratosis |
| SEQ4344 | Congenital dyskeratosis |
| SEQ4152 | Familial dysfibrinogenemia |
| SEQ4153 | Familial dysfibrinogenemia |
| SEQ4151 | Familial dysfibrinogenemia |
| SEQ4031 | Demyopathy |
| SEQ3761 | Glucose-6-phosphate dehydrogenase deficiency |
| SEQ3771 | Glutathione synthetase deficiency |
| SEQ3611 | Congenital protein C deficiency |
| SEQ3651 | Type 1 leukocyte adhesion deficit |
| SEQ3521 | TYPE 1 PLASMINOGEN deficiency |
| SEQ3363 | Congenital Glycosylation Defect type 1C |
| SEQ3361 | Congenital Glycosylation Defect type 1A |
| SEQ3362 | Congenital Glycosylation Defect type 1B |
| SEQ3031 | Hereditary coproporphyria |
| SEQ2941 | Cohen syndrome, c.3348_3349delCT mutation VPS13B gene |
| SEQ2942 | Cohen syndrome |
| SEQ2831 | Chediak-Higashi syndrome |
| SEQ2651 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| SEQ2327 | Blackfan-Diamond disease |
| SEQ2328 | Blackfan-Diamond disease |
| SEQ2329 | Blackfan-Diamond disease |
| SEQ2322 | Blackfan-Diamond disease |
| SEQ2323 | Blackfan-Diamond disease |
| SEQ2324 | Blackfan-Diamond disease |
| SEQ2325 | Blackfan-Diamond disease |
| SEQ2326 | Blackfan-Diamond disease |
| SEQ2295 | Beta-Cystathionine synthetase, mutation ile278Thr and Gly3076Ser CBS gene |
| SEQ2301 | Beta-Thalassemia |
| SEQ2321 | Blackfan-Diamond disease |
| SEQ2291 | Bernard-Soulier syndrome |
| SEQ2292 | Bernard-Soulier syndrome |
| SEQ2293 | Bernard-Soulier syndrome |
| SEQ1991 | ATR-X syndrome |
| SEQ2015 | Familial autoinflammatory type Behcer-likem syndrome |
| SEQ1721 | Hereditary cerebral amyloid angiopathy |
| SEQ1722 | Hereditary cerebral amyloid angiopathy |
| SEQ1708 | Hemophilia A |
| SEQ1709 | Hemophilia B |
| SEQ1710 | Hemophilia A |
| SEQ1661 | Thiamine-sensitive megaloblastic anemia syndrome |
| SEQ1681 | X-linked sideroblastic anemia |
| SEQ1643 | Congenital dyserythropoietic anemia type 2 |
| SEQ1644 | Congenital dyserythropoietic anemia type 3 |
| SEQ1651 | Hemolytic anemia due to hexokinase deficiency |
| SEQ1655 | Iron refractory iron deficiency anemia (IRIDA) |
| SEQ1633 | Fanconi anemia |
| SEQ1634 | Fanconi anemia |
| SEQ1637 | Fanconi anemia |
| SEQ1641 | Congenital Dyserythropoietic Anemia |
| SEQ1642 | Congenital dyserythropoietic anemia type 1 |
| SEQ1628 | Fanconi anemia |
| SEQ1629 | Fanconi anemia |
| SEQ1630 | Fanconi anemia |
| SEQ1631 | Fanconi anemia |
| SEQ1632 | Fanconi anemia |
| SEQ1622 | Fanconi anemia |
| SEQ1624 | Fanconi anemia |
| SEQ1625 | Fanconi anemia |
| SEQ1626 | Fanconi anemia |
| SEQ1627 | Fanconi anemia |
| SEQ1611 | Sickle cell anemia |
| SEQ1621 | Fanconi anemia |
| SEQ1461 | Alpha-mannosidosis |
| SEQ1481 | Allgrove syndrome |
| SEQ1347 | Predisposition to myeloid pathologies |
| SEQ1348 | Predisposition to pediatric hematitis |
| SEQ1349 | Hereditary syndromes with bone marrow failure |
| SEQ1350 | Congenital Blackfan-Diamond Erythorblastopenia and Differential Diagnosis |
| SEQ1302 | Fumaric aciduria |
| SEQ1260 | Methylmalonic acidemia - homocystinuria, type cbl C |
| SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
| SEQ1257 | Methylmalonic acidemia |
| SEQ1259 | Methylmalonic acidemia - homocystinuria, type cbl C, mutation c.271dupA MMACHC gene |
| SEQ1211 | Abetalipoproteinemia |
| SEQ1084 | Noonan syndrome |
| SEQ1076 | Familial / Hereditary Erythrocytosis |
| SEQ1021 | 6-Mercaptonuria (Thiopurine S-Methyltransferase Deficiency) |
| PRE7002 | Noonan syndrome / Noonan-like syndrome / Costello syndrome / Cardiofaciocutaneous syndrome / Legius syndrome |
| MLP3501 | Von Hippel-Lindau syndrome |
| MLP3401 | Hereditary hemorrhagic telangiectasia, Primary pulmonary hypertension |
| MLP3021 | Porphyrias |
| MLP2961 | Peutz-Jeghers syndrome |
| MLP1454 | X-linked Charcot-Marie-Tooth disease |
| MLP1221 | Beta thalassemia |
| MLP1241 | Blackfan-Diamond disease |
| MLP1096 | FANCA |
| MLP1041 | Alpha thalassemia |
| EXN1149 | Predisposition to myeloid pathologies |
| EXN1150 | Bleeding diathesis |
| EXN1141 | Hereditary hemolytic anemia |
| EXN1120 | Inherited bone marrow failure syndromes |
| EXN1110 | Hermansky‐Pudlak syndrome |
| EXN1039 | Syndronic and non-syndromic congenital neutropenia |
| EXN1040 | Blackfan-Diamond congenital erythroblastopenia |
| EXN1032 | Vascular malformations |
| EXN1010 | Mitochondrial disorders secondary to mutations in the nuclear DNA |
| 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
