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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
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®


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