Hematology
Most hematologic disorders have a genetic link – highlighting the importance of quick and comprehensive answers. We have identified genetic variants associated with hematological diseases in more than 300 different genes. Our genetic tests leverage our rare disease-centric Bio/Databank and our in-house medical expertise to provide accurate and precise diagnoses, prognoses, and potential treatment options, when applicable.
Blood coagulation panel
Our blood coagulation panel contains genes to diagnose thrombophilia, thrombocytopenia, hereditary hemorrhagic telangiectasia, ARC syndrome, Hermasky-Pudlak syndrome, coagulation factor disorders, hemophilia, and platelet related disorders.
| No. of genes: | 112 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
Targeted mutation analysis: F8
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCG5 | 605459 | Sitosterolemia 2 | AR |
| ABCG8 | 605460 | Gallbladder disease 4 | - |
| Sitosterolemia 1 | AR | ||
| ACTN1 | 102575 | Bleeding disorder, platelet-type, 15 | AD |
| ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
| ADAMTS13 | 604134 | Thrombotic thrombocytopenic purpura, hereditary | AR |
| ADAMTS2 | 604539 | Ehlers-Danlos syndrome, dermatosparaxis type | AR |
| ANKRD26 | 610855 | Thrombocytopenia 2 | AD |
| ANO6 | 608663 | Scott syndrome | AR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| ARPC1B | 604223 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | AR |
| BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
| BLOC1S6 | 604310 | ?Hermansky-pudlak syndrome 9 | AR |
| C1R | 613785 | Ehlers-Danlos syndrome, periodontal type, 1 | AD |
| CCM2 | 607929 | Cerebral cavernous malformations-2 | AD |
| CD36 | 173510 | Malaria, cerebral, reduced risk of | - |
| Coronary heart disease, susceptibility to, 7 | - | ||
| Platelet glycoprotein IV deficiency | AR | ||
| Malaria, cerebral, susceptibility to | - | ||
| CD40LG | 300386 | Immunodeficiency, X-linked, with hyper-IgM | XLR |
| CDC42 | 116952 | Takenouchi-Kosaki syndrome | AD |
| CHST14 | 608429 | Ehlers-Danlos syndrome, musculocontractural type 1 | AR |
| COL1A2 | 120160 | Osteoporosis, postmenopausal | AD |
| Ehlers-Danlos syndrome, cardiac valvular type | AR | ||
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | AD | ||
| Osteogenesis imperfecta, type III | AD | ||
| Osteogenesis imperfecta, type IV | AD | ||
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | AD | ||
| Osteogenesis imperfecta, type II | AD | ||
| COL3A1 | 120180 | Ehlers-Danlos syndrome, vascular type | AD |
| Polymicrogyria with or without vascular-type EDS | AR | ||
| COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
| Hemorrhage, intracerebral, susceptibility to | - | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
| Brain small vessel disease with or without ocular anomalies | AD | ||
| COLGALT1 | 617531 | Brain small vessel disease 3 | AR |
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CYCS | 123970 | Thrombocytopenia 4 | AD |
| DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome | AR |
| Deafness, autosomal dominant 1, with or without thrombocytopenia | AD | ||
| DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
| EFEMP2 | 604633 | Cutis laxa, autosomal recessive, type IB | AR |
| EFL1 | 617538 | Shwachman-Diamond syndrome 2 | AR |
| ENG | 131195 | Telangiectasia, hereditary hemorrhagic, type 1 | AD |
| ETV6 | 600618 | Leukemia, acute myeloid, somatic | - |
| Thrombocytopenia 5 | AD | ||
| F10 | 613872 | Factor X deficiency | AR |
| F11 | 264900 | Factor XI deficiency, autosomal dominant | - |
| Factor XI deficiency, autosomal recessive | - | ||
| F12 | 610619 | Factor XII deficiency | AR |
| Angioedema, hereditary, type III | AD | ||
| F13A1 | 134570 | Factor XIIIA deficiency | AR |
| Venous thrombosis, protection against | AD | ||
| Myocardial infarction, protection against | - | ||
| F13B | 134580 | Factor XIIIB deficiency | AR |
| F2 | 176930 | Dysprothrombinemia | AR |
| Stroke, ischemic, susceptibility to | MF | ||
| Pregnancy loss, recurrent, susceptibility to, 2 | AD | ||
| Hypoprothrombinemia | AR | ||
| Thrombophilia due to thrombin defect | AD | ||
| F5 | 612309 | Pregnancy loss, recurrent, susceptibility to, 1 | AD |
| Factor V deficiency | AR | ||
| Stroke, ischemic, susceptibility to | MF | ||
| Budd-Chiari syndrome | AR | ||
| Thrombophilia, susceptibility to, due to factor V Leiden | AD | ||
| Thrombophilia due to activated protein C resistance | AD | ||
| F7 | 613878 | Myocardial infarction, decreased susceptibility to | - |
| Factor VII deficiency | AR | ||
| F8 | 300841 | Thrombophilia 13, X-linked, due to factor VIII defect | - |
| Hemophilia A | XLR | ||
| F9 | 300746 | Warfarin sensitivity | XL |
| Thrombophilia, X-linked, due to factor IX defect | XLR | ||
| Hemophilia B | XLR | ||
| Deep venous thrombosis, protection against | XLR | ||
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FERMT3 | 607901 | Leukocyte adhesion deficiency, type III | AR |
| FGA | 134820 | Hypodysfibrinogenemia, congenital | - |
| Afibrinogenemia, congenital | AR | ||
| Amyloidosis, familial visceral | AD | ||
| Dysfibrinogenemia, congenital | - | ||
| FGB | 134830 | Afibrinogenemia, congenital | AR |
| Dysfibrinogenemia, congenital | - | ||
| Hypofibrinogenemia, congenital | AR | ||
| FGG | 134850 | Dysfibrinogenemia, congenital | - |
| Afibrinogenemia, congenital | AR | ||
| Hypofibrinogenemia, congenital | AR | ||
| Hypodysfibrinogenemia | - | ||
| FLI1 | 193067 | Bleeding disorder, platelet-type, 21 | AD, AR |
| FLNA | 300017 | Frontometaphyseal dysplasia 1 | XLR |
| Heterotopia, periventricular, 1 | XLD | ||
| Terminal osseous dysplasia | XLD | ||
| Congenital short bowel syndrome | XLR | ||
| Otopalatodigital syndrome, type II | XLD | ||
| Melnick-Needles syndrome | XLD | ||
| Cardiac valvular dysplasia, X-linked | XL | ||
| Intestinal pseudoobstruction, neuronal | XLR | ||
| ?FG syndrome 2 | XL | ||
| Otopalatodigital syndrome, type I | XLD | ||
| FYB1 | 602731 | Thrombocytopenia 3 | AR |
| GATA1 | 305371 | Thrombocytopenia with beta-thalassemia, X-linked | XLR |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | XLR | ||
| Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | XLR | ||
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic | - | ||
| Hemolytic anemia due to elevated adenosine deaminase | - | ||
| GFI1B | 604383 | Bleeding disorder, platelet-type, 17 | AD, AR |
| GGCX | 137167 | Vitamin K-dependent clotting factors, combined deficiency of, 1 | AR |
| Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency | - | ||
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GP1BA | 606672 | Bernard-Soulier syndrome, type A1 (recessive) | AR |
| von Willebrand disease, platelet-type | AD | ||
| Bernard-Soulier syndrome, type A2 (dominant) | AD | ||
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | AR | ||
| GP1BB | 138720 | Giant platelet disorder, isolated | AR |
| Bernard-Soulier syndrome, type B | AR | ||
| GP6 | 605546 | Bleeding disorder, platelet-type, 11 | AR |
| GP9 | 173515 | Bernard-Soulier syndrome, type C | AR |
| GUCY1A1 | 139396 | Moyamoya 6 with achalasia | AR |
| HOXA11 | 142958 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | AD |
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| HRG | 142640 | Thrombophilia due to HRG deficiency | AD |
| IGFBP7 | 602867 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | AR |
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| ITGA2B | 607759 | Glanzmann thrombasthenia | AR |
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| ITGB3 | 173470 | Glanzmann thrombasthenia 2 | - |
| Glanzmann thrombasthenia | AR | ||
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| Myocardial infarction, susceptibility to | - | ||
| Bleeding disorder, platelet-type, 24, autosomal dominant | - | ||
| JAM3 | 606871 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | AR |
| KDSR | 136440 | Erythrokeratodermia variabilis et progressiva 4 | AR |
| KRIT1 | 604214 | Cavernous malformations of CNS and retina | AD |
| Cerebral cavernous malformations-1 | AD | ||
| Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations | AD | ||
| LMAN1 | 601567 | Combined factor V and VIII deficiency | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| LYZ | 153450 | Amyloidosis, renal | AD |
| MCFD2 | 607788 | Factor V and factor VIII, combined deficiency of | - |
| MECOM | 165215 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | AD |
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MYH9 | 160775 | Deafness, autosomal dominant 17 | AD |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | ||
| NBEAL2 | 614169 | Gray platelet syndrome | AR |
| P2RY12 | 600515 | Bleeding disorder, platelet-type, 8 | AR |
| PDCD10 | 609118 | Cerebral cavernous malformations 3 | AD |
| PLA2G4A | 600522 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | AR |
| PLAT | 173370 | Hyperfibrinolysis, familial, due to increased release of PLAT | - |
| Thrombophilia, familial, due to decreased release of PLAT | - | ||
| PLAU | 191840 | Quebec platelet disorder | AD |
| Alzheimer disease, late-onset, susceptibility to | AD | ||
| PROC | 612283 | Thrombophilia due to protein C deficiency, autosomal dominant | AD |
| Thrombophilia due to protein C deficiency, autosomal recessive | AR | ||
| PROS1 | 176880 | Thrombophilia due to protein S deficiency, autosomal recessive | AR |
| Thrombophilia due to protein S deficiency, autosomal dominant | AD | ||
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
| RUNX1 | 151385 | Leukemia, acute myeloid | AD, SM |
| Platelet disorder, familial, with associated myeloid malignancy | AD | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SERPINC1 | 107300 | Thrombophilia due to antithrombin III deficiency | AD, AR |
| SERPIND1 | 142360 | Thrombophilia due to heparin cofactor II deficiency | AD |
| SERPINE1 | 173360 | Plasminogen activator inhibitor-1 deficiency | AD, AR |
| SERPINF2 | 613168 | Alpha-2-plasmin inhibitor deficiency | AR |
| SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
| SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
| SLFN14 | 614958 | Bleeding disorder, platelet-type, 20 | AD |
| SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| Pancreatic cancer, somatic | - | ||
| Myhre syndrome | AD | ||
| Polyposis, juvenile intestinal | AD | ||
| SRC | 190090 | Colon cancer, advanced, somatic | - |
| ?Thrombocytopenia 6 | AD | ||
| STIM1 | 605921 | Myopathy, tubular aggregate, 1 | AD |
| Stormorken syndrome | AD | ||
| Immunodeficiency 10 | AR | ||
| STN1 | 613128 | Cerebroretinal microangiopathy with calcifications and cysts 2 | AR |
| TBXA2R | 188070 | Bleeding disorder, platelet-type, 13, susceptibility to | AD |
| THBD | 188040 | Thrombophilia due to thrombomodulin defect | - |
| Hemolytic uremic syndrome, atypical, susceptibility to, 6 | AD | ||
| THPO | 600044 | Thrombocythemia 1 | AD |
| - | AR | ||
| TUBB1 | 612901 | Macrothrombocytopenia, autosomal dominant, TUBB1-related | AD |
| VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
| VKORC1 | 608547 | Vitamin K-dependent clotting factors, combined deficiency of, 2 | AR |
| Warfarin resistance | AD | ||
| VPS33B | 608552 | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR |
| Cholestasis, progressive familial intrahepatic, 12 | - | ||
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | - | ||
| VWF | 613160 | von Willebrand disease, types 2A, 2B, 2M, and 2N | AD, AR |
| von Willebrand disease, type 1 | AD | ||
| von Willebrand disease, type 3 | AR | ||
| WAS | 300392 | Wiskott-Aldrich syndrome | XLR |
| Thrombocytopenia, X-linked | XLR | ||
| Neutropenia, severe congenital, X-linked | XLR | ||
| Thrombocytopenia, X-linked, intermittent | XLR | ||
| WIPF1 | 602357 | Wiskott-Aldrich syndrome 2 | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Afibrinogenemia
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Coagulation factor disorders
- Hemophilia
- Hereditary angioedema
- Hereditary hemorrhagic telangiectasia
- Hermasky-Pudlak syndrome
- Platelet related disorders
- Shwachman-Diamond syndrome
- Thrombocytopenia
- Thrombophilia
Bone marrow failure / Anemia panel
Our bone marrow failure / Anemia panel is intended for patients with abnormalities in more than two blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies. Some specific disorders detected with this panel are hemophagocytic lymphohistiocytosis, Seckel syndrome, thrombocytopenia, Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome as well as other types of anemias, such as thalassemia alpha and beta, sickle cell disease, spherocytosis, megaloblastic anemia, congenital sideroblastic, and dyserythropoietic anemia.
| No. of genes: | 214 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCB6 | 605452 | Microphthalmia, isolated, with coloboma 7 | AD |
| [Blood group, Langereis system] | - | ||
| Dyschromatosis universalis hereditaria 3 | AD | ||
| Pseudohyperkalemia, familial, 2, due to red cell leak | AD | ||
| ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
| ABCG5 | 605459 | Sitosterolemia 2 | AR |
| ABCG8 | 605460 | Gallbladder disease 4 | - |
| Sitosterolemia 1 | AR | ||
| ACD | 609377 | ?Dyskeratosis congenita, autosomal dominant 6 | AD, AR |
| ?Dyskeratosis congenita, autosomal recessive 7 | AD, AR | ||
| ACTN1 | 102575 | Bleeding disorder, platelet-type, 15 | AD |
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADA2 | 607575 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | AR |
| ?Sneddon syndrome | AR | ||
| ADAMTS13 | 604134 | Thrombotic thrombocytopenic purpura, hereditary | AR |
| AK1 | 103000 | Hemolytic anemia due to adenylate kinase deficiency | AR |
| AK2 | 103020 | Reticular dysgenesis | AR |
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
| Anemia, sideroblastic, 1 | XLR | ||
| ALDOA | 103850 | Glycogen storage disease XII | AR |
| AMMECR1 | 300195 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | XLR |
| AMN | 605799 | Imerslund-Grasbeck syndrome 2 | AR |
| ANK1 | 612641 | Spherocytosis, type 1 | AD, AR |
| ANKRD26 | 610855 | Thrombocytopenia 2 | AD |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| BLM | 604610 | Bloom syndrome | AR |
| BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BRIP1 | 605882 | Fanconi anemia, complementation group J | - |
| Breast cancer, early-onset, susceptibility to | AD, SM | ||
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II | AD |
| Gastric cancer, somatic | - | ||
| Lymphoma, non-Hodgkin, somatic | - | ||
| CBL | 165360 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
| ?Juvenile myelomonocytic leukemia | AD, SM | ||
| CBLIF | 609342 | Intrinsic factor deficiency | AR |
| CD36 | 173510 | Malaria, cerebral, reduced risk of | - |
| Coronary heart disease, susceptibility to, 7 | - | ||
| Platelet glycoprotein IV deficiency | AR | ||
| Malaria, cerebral, susceptibility to | - | ||
| CD40LG | 300386 | Immunodeficiency, X-linked, with hyper-IgM | XLR |
| CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
| CDAN1 | 607465 | Dyserythropoietic anemia, congenital, type Ia | AR |
| CDC42 | 116952 | Takenouchi-Kosaki syndrome | AD |
| CDIN1 | 615626 | Dyserythropoietic anemia, congenital, type Ib | AR |
| CENPJ | 609279 | ?Seckel syndrome 4 | AR |
| Microcephaly 6, primary, autosomal recessive | AR | ||
| CEP152 | 613529 | Microcephaly 9, primary, autosomal recessive | AR |
| Seckel syndrome 5 | AR | ||
| CHEK2 | 604373 | Prostate cancer, familial, susceptibility to | AD, SM |
| Colorectal cancer, susceptibility to | AD, SM | ||
| Breast cancer, susceptibility to | AD, SM | ||
| Osteosarcoma, somatic | - | ||
| Li-Fraumeni syndrome | - | ||
| CLCN7 | 602727 | Osteopetrosis, autosomal recessive 4 | AR |
| Osteopetrosis, autosomal dominant 2 | AD | ||
| Hypopigmentation, organomegaly, and delayed myelination and development | AD | ||
| CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
| Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
| COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
| Hemorrhage, intracerebral, susceptibility to | - | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
| Brain small vessel disease with or without ocular anomalies | AD | ||
| CSF3R | 138971 | Neutropenia, severe congenital, 7, autosomal recessive | AR |
| ?Neutrophilia, hereditary | AD | ||
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CTLA4 | 123890 | Systemic lupus erythematosus, susceptibility to | AD |
| Autoimmune lymphoproliferative syndrome, type V | AD | ||
| Celiac disease, susceptibility to, 3 | - | ||
| Hashimoto thyroiditis | AD | ||
| Diabetes mellitus, insulin-dependent, 12 | - | ||
| CUBN | 602997 | [Proteinuria, chronic benign] | AR |
| Imerslund-Grasbeck syndrome 1 | AR | ||
| CXCR4 | 162643 | WHIM syndrome | AD |
| CYB5R3 | 613213 | Methemoglobinemia, type I | AR |
| Methemoglobinemia, type II | AR | ||
| CYCS | 123970 | Thrombocytopenia 4 | AD |
| DHFR | 126060 | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
| DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome | AR |
| Deafness, autosomal dominant 1, with or without thrombocytopenia | AD | ||
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DNAJC21 | 617048 | Bone marrow failure syndrome 3 | AR |
| DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
| EFL1 | 617538 | Shwachman-Diamond syndrome 2 | AR |
| ELANE | 130130 | Neutropenia, cyclic | AD |
| Neutropenia, severe congenital 1, autosomal dominant | AD | ||
| EPB41 | 130500 | Elliptocytosis-1 | AD, AR |
| EPB42 | 177070 | Spherocytosis, type 5 | - |
| ERCC4 | 133520 | XFE progeroid syndrome | AR |
| Xeroderma pigmentosum, type F/Cockayne syndrome | AR | ||
| Xeroderma pigmentosum, group F | AR | ||
| Fanconi anemia, complementation group Q | AR | ||
| ETV6 | 600618 | Leukemia, acute myeloid, somatic | - |
| Thrombocytopenia 5 | AD | ||
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCB | - | Fanconi anemia, complementation group B | XLR |
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FANCD2 | 613984 | Fanconi anemia, complementation group D2 | AR |
| FANCE | 613976 | Fanconi anemia, complementation group E | AR |
| FANCF | 613897 | Fanconi anemia, complementation group F | AR |
| FANCG | 602956 | Fanconi anemia, complementation group G | AR |
| FANCI | 611360 | Fanconi anemia, complementation group I | AR |
| FANCL | - | Fanconi anemia, complementation group L | AR |
| FANCM | 609644 | Spermatogenic failure 28 | AR |
| ?Premature ovarian failure 15 | AR | ||
| FAS | 134637 | Autoimmune lymphoproliferative syndrome, type IA | AD |
| Autoimmune lymphoproliferative syndrome | AD | ||
| FASLG | 134638 | Autoimmune lymphoproliferative syndrome, type IB | AD |
| Lung cancer, susceptibility to | AD, SM | ||
| FLI1 | 193067 | Bleeding disorder, platelet-type, 21 | AD, AR |
| G6PC3 | 611045 | Dursun syndrome | AR |
| Neutropenia, severe congenital 4, autosomal recessive | AR | ||
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GATA1 | 305371 | Thrombocytopenia with beta-thalassemia, X-linked | XLR |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | XLR | ||
| Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | XLR | ||
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic | - | ||
| Hemolytic anemia due to elevated adenosine deaminase | - | ||
| GATA2 | 137295 | Myelodysplastic syndrome, susceptibility to | - |
| Leukemia, acute myeloid, susceptibility to | AD, SM | ||
| Emberger syndrome | AD | ||
| Immunodeficiency 21 | AD | ||
| GCLC | 606857 | Myocardial infarction, susceptibility to | - |
| Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency | AR | ||
| GFI1 | 600871 | Neutropenia, severe congenital 2, autosomal dominant | AD |
| ?Neutropenia, nonimmune chronic idiopathic, of adults | AD | ||
| GFI1B | 604383 | Bleeding disorder, platelet-type, 17 | AD, AR |
| GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia | AR |
| Anemia, sideroblastic, 3, pyridoxine-refractory | AR | ||
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GP1BA | 606672 | Bernard-Soulier syndrome, type A1 (recessive) | AR |
| von Willebrand disease, platelet-type | AD | ||
| Bernard-Soulier syndrome, type A2 (dominant) | AD | ||
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | AR | ||
| GP1BB | 138720 | Giant platelet disorder, isolated | AR |
| Bernard-Soulier syndrome, type B | AR | ||
| GP9 | 173515 | Bernard-Soulier syndrome, type C | AR |
| GPI | 172400 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | AR |
| GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
| GSR | 138300 | Hemolytic anemia due to glutathione reductase deficiency | AR |
| GSS | 601002 | Glutathione synthetase deficiency | AR |
| Hemolytic anemia due to glutathione synthetase deficiency | AR | ||
| GYPC | 110750 | Malaria, resistance to | - |
| [Blood group, Gerbich] | - | ||
| HAX1 | 605998 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HBA2 | 141850 | Thalassemia, alpha- | - |
| Erythrocytosis 7 | AD | ||
| Heinz body anemia | AD | ||
| Hemoglobin H disease, deletional and nondeletional | - | ||
| HBB | 141900 | Erythrocytosis 6 | AD |
| Methemoglobinemia, beta type | AD | ||
| Delta-beta thalassemia | AD | ||
| Thalassemia-beta, dominant inclusion-body | AD | ||
| Sickle cell anemia | AR | ||
| Hereditary persistence of fetal hemoglobin | AD | ||
| Malaria, resistance to | - | ||
| Thalassemia, beta | - | ||
| Heinz body anemia | AD | ||
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HK1 | 142600 | Retinitis pigmentosa 79 | AD |
| Hemolytic anemia due to hexokinase deficiency | AR | ||
| Neurodevelopmental disorder with visual defects and brain anomalies | AD | ||
| Neuropathy, hereditary motor and sensory, Russe type | AR | ||
| HMOX1 | 141250 | Heme oxygenase-1 deficiency | AR |
| Pulmonary disease, chronic obstructive, susceptibility to | - | ||
| HOXA11 | 142958 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | AD |
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| HSPA9 | 600548 | Even-plus syndrome | AR |
| Anemia, sideroblastic, 4 | AD | ||
| IKZF1 | 603023 | Immunodeficiency, common variable, 13 | AD |
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| ITGA2B | 607759 | Glanzmann thrombasthenia | AR |
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| ITGB3 | 173470 | Glanzmann thrombasthenia 2 | - |
| Glanzmann thrombasthenia | AR | ||
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| Myocardial infarction, susceptibility to | - | ||
| Bleeding disorder, platelet-type, 24, autosomal dominant | - | ||
| ITK | 186973 | Lymphoproliferative syndrome 1 | AR |
| JAGN1 | 616012 | Neutropenia, severe congenital, 6, autosomal recessive | AR |
| KCNN4 | 602754 | Dehydrated hereditary stomatocytosis 2 | AD |
| KDM1A | 609132 | Cleft palate, psychomotor retardation, and distinctive facial features | AD |
| KDSR | 136440 | Erythrokeratodermia variabilis et progressiva 4 | AR |
| KIT | 164920 | Gastrointestinal stromal tumor, familial | AD, IC |
| Germ cell tumors, somatic | - | ||
| Piebaldism | AD | ||
| Leukemia, acute myeloid, somatic | - | ||
| Mastocytosis, systemic, somatic | - | ||
| Mastocytosis, cutaneous | AD | ||
| KLF1 | 600599 | Dyserythropoietic anemia, congenital, type IV | AD |
| Blood group--Lutheran inhibitor | - | ||
| [Hereditary persistence of fetal hemoglobin] | - | ||
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| LIG4 | 601837 | Multiple myeloma, resistance to | SM |
| LIG4 syndrome | AR | ||
| LPIN2 | 605519 | Majeed syndrome | - |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MECOM | 165215 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | AD |
| MLH1 | 120436 | Mismatch repair cancer syndrome 1 | AR |
| Muir-Torre syndrome | AD | ||
| Colorectal cancer, hereditary nonpolyposis, type 2 | - | ||
| MPIG6B | 606520 | ?Thrombocytopenia, anemia, and myelofibrosis | AR |
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MSH2 | 609309 | Muir-Torre syndrome | AD |
| Colorectal cancer, hereditary nonpolyposis, type 1 | AD | ||
| Mismatch repair cancer syndrome 2 | AR | ||
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MTR | 156570 | Neural tube defects, folate-sensitive, susceptibility to | AR |
| Homocystinuria-megaloblastic anemia, cblG complementation type | AR | ||
| MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type | AR |
| Neural tube defects, folate-sensitive, susceptibility to | AR | ||
| MYH9 | 160775 | Deafness, autosomal dominant 17 | AD |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | ||
| MYSM1 | 612176 | Bone marrow failure syndrome 4 | AR |
| NBEAL2 | 614169 | Gray platelet syndrome | AR |
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NFKB1 | 164011 | Immunodeficiency, common variable, 12 | AD |
| NHP2 | 606470 | Dyskeratosis congenita, autosomal recessive 2 | AR |
| NOP10 | 606471 | Dyskeratosis congenita, autosomal recessive 1 | AR |
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| NT5C3A | 606224 | Anemia, hemolytic, due to UMPH1 deficiency | AR |
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PARN | 604212 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | AD |
| Dyskeratosis congenita, autosomal recessive 6 | AR | ||
| PC | 608786 | Pyruvate carboxylase deficiency | AR |
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PIEZO1 | 611184 | Lymphatic malformation 6 | AR |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | AD | ||
| PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes | AD |
| Pyruvate kinase deficiency | AR | ||
| PLAU | 191840 | Quebec platelet disorder | AD |
| Alzheimer disease, late-onset, susceptibility to | AD | ||
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| PRF1 | 170280 | Hemophagocytic lymphohistiocytosis, familial, 2 | AR |
| Lymphoma, non-Hodgkin | - | ||
| Aplastic anemia | - | ||
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| PUS1 | - | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
| RAC2 | 602049 | ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia | AR |
| Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis | AD | ||
| Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | AD | ||
| RAD51 | 179617 | Breast cancer, susceptibility to | AD, SM |
| Mirror movements 2 | AD | ||
| Fanconi anemia, complementation group R | AD | ||
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
| REN | 179820 | Hyperuricemic nephropathy, familial juvenile 2 | AD |
| Renal tubular dysgenesis | AR | ||
| RHAG | 180297 | Overhydrated hereditary stomatocytosis | AD |
| Anemia, hemolytic, Rh-null, regulator type | AD | ||
| RIT1 | 609591 | Noonan syndrome 8 | AD |
| RPL11 | 604175 | Diamond-Blackfan anemia 7 | AD |
| RPL15 | 604174 | ?Diamond-Blackfan anemia 12 | AD |
| RPL35A | 180468 | Diamond-Blackfan anemia 5 | AD |
| RPL5 | 603634 | Diamond-Blackfan anemia 6 | AD |
| RPS10 | 603632 | Diamond-Blackfan anemia 9 | AD |
| RPS19 | 603474 | Diamond-Blackfan anemia 1 | AD |
| RPS24 | 602412 | Diamond-blackfan anemia 3 | AD |
| RPS26 | 603701 | Diamond-Blackfan anemia 10 | AD |
| RPS28 | 603685 | Diamond Blackfan anemia 15 with mandibulofacial dysostosis | AD |
| RPS29 | 603633 | Diamond-Blackfan anemia 13 | AD |
| RPS7 | 603658 | Diamond-Blackfan anemia 8 | AD |
| RTEL1 | 608833 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | AD |
| Dyskeratosis congenita, autosomal dominant 4 | AD, AR | ||
| Dyskeratosis congenita, autosomal recessive 5 | AD, AR | ||
| RUNX1 | 151385 | Leukemia, acute myeloid | AD, SM |
| Platelet disorder, familial, with associated myeloid malignancy | AD | ||
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SEC23B | 610512 | Dyserythropoietic anemia, congenital, type II | AR |
| ?Cowden syndrome 7 | AD | ||
| SH2D1A | - | Lymphoproliferative syndrome, X-linked, 1 | XLR |
| SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
| SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
| Microcephaly, Amish type | AR | ||
| SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
| SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset | AD |
| GLUT1 deficiency syndrome 1, infantile onset, severe | AD, AR | ||
| Epilepsy, idiopathic generalized, susceptibility to, 12 | AD | ||
| Stomatin-deficient cryohydrocytosis with neurologic defects | AD | ||
| Dystonia 9 | AD | ||
| SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
| SLC4A1 | 109270 | [Blood group, Wright] | - |
| Distal renal tubular acidosis 1 | AD | ||
| Ovalocytosis, SA type | AD | ||
| [Malaria, resistance to] | - | ||
| [Blood group, Swann] | - | ||
| [Blood group, Froese] | - | ||
| [Blood group, Waldner] | - | ||
| Cryohydrocytosis | AD | ||
| [Blood group, Diego] | - | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | AR | ||
| Spherocytosis, type 4 | AD | ||
| SLFN14 | 614958 | Bleeding disorder, platelet-type, 20 | AD |
| SLX4 | 613278 | Fanconi anemia, complementation group P | AR |
| SPTA1 | 182860 | Pyropoikilocytosis | AR |
| Elliptocytosis-2 | AD | ||
| Spherocytosis, type 3 | AR | ||
| SPTB | 182870 | Spherocytosis, type 2 | AD |
| Elliptocytosis-3 | - | ||
| Anemia, neonatal hemolytic, fatal or near-fatal | - | ||
| SRP72 | 602122 | Bone marrow failure syndrome 1 | AD |
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| STIM1 | 605921 | Myopathy, tubular aggregate, 1 | AD |
| Stormorken syndrome | AD | ||
| Immunodeficiency 10 | AR | ||
| STX11 | 605014 | Hemophagocytic lymphohistiocytosis, familial, 4 | AR |
| STXBP2 | 601717 | Hemophagocytic lymphohistiocytosis, familial, 5 | - |
| TCN2 | 613441 | Transcobalamin II deficiency | AR |
| TERT | 187270 | Melanoma, cutaneous malignant, 9 | - |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | AD | ||
| Dyskeratosis congenita, autosomal dominant 2 | AD, AR | ||
| Leukemia, acute myeloid | AD, SM | ||
| Dyskeratosis congenita, autosomal recessive 4 | AD, AR | ||
| THPO | 600044 | Thrombocythemia 1 | AD |
| - | AR | ||
| TINF2 | 604319 | Revesz syndrome | AD |
| Dyskeratosis congenita, autosomal dominant 3 | AD | ||
| TMPRSS6 | 609862 | Iron-refractory iron deficiency anemia | AR |
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| TPI1 | 190450 | Hemolytic anemia due to triosephosphate isomerase deficiency | AR |
| TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
| TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis | AR |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR | ||
| UBE2T | 610538 | Fanconi anemia, complementation group T | AR |
| UNC13D | 608897 | Hemophagocytic lymphohistiocytosis, familial, 3 | AR |
| VPS13B | 607817 | Cohen syndrome | AR |
| VPS45 | 610035 | Neutropenia, severe congenital, 5, autosomal recessive | AR |
| WAS | 300392 | Wiskott-Aldrich syndrome | XLR |
| Thrombocytopenia, X-linked | XLR | ||
| Neutropenia, severe congenital, X-linked | XLR | ||
| Thrombocytopenia, X-linked, intermittent | XLR | ||
| WNT4 | 603490 | Mullerian aplasia and hyperandrogenism | AD |
| ?SERKAL syndrome | AR | ||
| WRAP53 | 612661 | Dyskeratosis congenita, autosomal recessive 3 | AR |
| XIAP | 300079 | Lymphoproliferative syndrome, X-linked, 2 | XLR |
| XK | 314850 | McLeod syndrome with or without chronic granulomatous disease | XL |
| XRCC2 | 600375 | Spermatogenic failure | AR |
| ?Fanconi anemia, complementation group U | AR | ||
| ?Premature ovarian failure 17 | AR | ||
| YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Bleeding disorders
- Bone marrow failure syndrome
- Congenital dyserythropoietic anemia
- Congenital sideroblastic anemia
- Diamond-Blackfan anemia
- Fanconi anemia
- Hemolytic anemias
- Hemophagocytic lymphohistiocytosis
- Hereditary spherocytosis
- Megaloblastic anemia
- Seckel syndrome
- Sitosterolemia
- Thrombocytopenia
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