At a Glance
X-linked sideroblastic anemia with ataxia;
3-Methylglutaconic aciduria type 2;
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
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X-linked sideroblastic anemia with ataxia
3-Methylglutaconic aciduria type 2
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Acquired hemoglobin H disease
Acute lymphoid leukemia
Acute myeloid leukemia
Adrenocortical carcinoma, hereditary
Alpha thalassemia-X-linked intellectual disability syndrome
Anauxetic dysplasia 1
Anemia without thromobocytopenia, X-linked
Anemia, sideroblastic, 1
Anemia, sideroblastic, 2, pyridoxine-refractory
Aplastic anemia
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia syndrome
Autoimmune disease, multisystem, infantile-onset, 1
Autoimmune lymphoproliferative syndrome type V
Autosomal dominant macrothrombocytopenia TUBB1-related
Autosomal dominant nonsyndromic deafness 17
Autosomal recessive osteopetrosis 1
BLOOD GROUP--LUTHERAN INHIBITOR
Basal cell carcinoma, susceptibility to, 7
Bernard Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Bloom syndrome
Bone marrow failure syndrome 1
Bone marrow failure syndrome 2
Bone marrow failure syndrome 3
Bone marrow failure syndrome 4
Bone marrow failure syndrome 5
Breast-ovarian cancer, familial 1
Breast-ovarian cancer, familial 2
Breast-ovarian cancer, familial 3
Breast-ovarian cancer, familial 4
Budd-Chiari syndrome
Café-au-lait macules with pulmonary stenosis
Carcinoma of pancreas
Cardiofaciocutaneous syndrome 2
Celiac disease 3
Cerebral arteriovenous malformation
Cerebroretinal microangiopathy with calcifications and cysts 1
Cerebroretinal microangiopathy with calcifications and cysts 2
Charcot-Marie-Tooth disease, type 4B2
Choroid plexus papilloma
Cleft palate, psychomotor retardation, and distinctive facial features
Colorectal cancer
Combined immunodeficiency due to STIM1 deficiency
Complete trisomy 21 syndrome
Congenital amegakaryocytic thrombocytopenia
Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type IV
Cowden syndrome 7
Cutaneous malignant melanoma 9
Cyclical neutropenia
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Diabetes mellitus, insulin-dependent, 12
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Diarrhea 5, with tufting enteropathy, congenital
Dyskeratosis congenita autosomal recessive 1
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 6
Dyskeratosis congenita, autosomal dominant, 2
Dyskeratosis congenita, autosomal dominant, 3
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 6
Dyskeratosis congenita, autosomal recessive, 3
Dyskeratosis congenita, autosomal recessive, 5
Endometrial carcinoma
Epidermal nevus
Epidermal nevus syndrome
Familial cancer of breast
Familial hemophagocytic lymphohistiocytosis 2
Familial platelet disorder with associated myeloid malignancy
Fanconi anemia, complementation group A
Fanconi anemia, complementation group B
Fanconi anemia, complementation group C
Fanconi anemia, complementation group D1
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group E
Fanconi anemia, complementation group F
Fanconi anemia, complementation group G
Fanconi anemia, complementation group I
Fanconi anemia, complementation group J
Fanconi anemia, complementation group L
Fanconi anemia, complementation group N
Fanconi anemia, complementation group O
Fanconi anemia, complementation group P
Fanconi anemia, complementation group Q
Fanconi anemia, complementation group R
Fanconi anemia, complementation group S
Fanconi anemia, complementation group T
Fanconi anemia, complementation group U
Fanconi anemia, complementation group V
Fanconi anemia, complementation group W
Fetal hemoglobin quantitative trait locus 6
GATA-1-related thrombocytopenia with dyserythropoiesis
Glanzmann thrombasthenia
Glioma susceptibility 1
Glioma susceptibility 3
Glioma susceptibility 9
Glucose-6-phosphate transport defect
Hashimoto thyroiditis
Hepatocellular carcinoma
Hereditary diffuse gastric cancer
Hereditary nonpolyposis colorectal cancer type 4
Hereditary nonpolyposis colorectal cancer type 5
Hereditary nonpolyposis colorectal cancer type 8
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Idiopathic livedo reticularis with systemic involvement
Immunodeficiency, common variable, 13
Juvenile myelomonocytic leukemia
Kostmann syndrome
LEOPARD syndrome 1
Large congenital melanocytic nevus
Leukemia, acute lymphoblastic, susceptibility to, 3
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 2
Lig4 syndrome
Lung carcinoma
Lymphedema, hereditary, III
Lymphedema, primary, with myelodysplasia
Lynch syndrome I
Lynch syndrome II
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Malignant tumor of prostate
Medulloblastoma
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Melanoma, cutaneous malignant, susceptibility to, 10
Mental retardation, autosomal dominant 29
Metachondromatosis
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Microcephaly, normal intelligence and immunodeficiency
Mirage syndrome
Mirror movements 2
Muir-Torré syndrome
Multiple myeloma
Myelodysplastic syndrome
Myelofibrosis
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, tubular aggregate, 1
Nasopharyngeal carcinoma
Neurocutaneous melanocytosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neutropenia, nonimmune chronic idiopathic, of adults
Neutropenia, severe congenital 1, autosomal dominant
Neutropenia, severe congenital, 7, autosomal recessive
Neutropenia, severe congenital, 8, autosomal dominant
Neutrophil immunodeficiency syndrome
Non-Hodgkin lymphoma
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Noonan syndrome 1
Noonan syndrome 3
Noonan syndrome 6
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Osteosarcoma
Pancreatic cancer 2
Pancreatic cancer 3
Pancreatic cancer 4
Phosphate transport defect
Platelet-type bleeding disorder 16
Poikiloderma with neutropenia
Polyarteritis nodosa, childhoood-onset
Polycythemia vera
Premature ovarian failure 15
Primary familial polycythemia due to EPO receptor mutation
Protoporphyria, erythropoietic, X-linked
Pseudo von Willebrand disease
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
RAS-associated autoimmune leukoproliferative disorder
Radial aplasia-thrombocytopenia syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Reticular dysgenesis
Revesz syndrome
Schinzel-Giedion syndrome
Severe congenital neutropenia 2, autosomal dominant
Severe congenital neutropenia 4, autosomal recessive
Severe congenital neutropenia 5, autosomal recessive
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Sideroblastic anemia 3, pyridoxine-refractory
Spasticity, childhood-onset, with hyperglycinemia
Spermatogenic failure 28
Stormorken syndrome
Systemic lupus erythematosus
Tatton-Brown-rahman syndrome
Thrombocythemia 3
Thrombocytopenia 2
Thrombocytopenia 5
Thrombocytopenia, anemia, and myelofibrosis
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Thrombocytosis, benign familial microcytic
Thyroid cancer, nonmedullary, 2
Toriello-Lacassie-Droste syndrome
Tumoral calcinosis, familial, normophosphatemic
Turcot syndrome
Urinary bladder cancer
Warts, hypogammaglobulinemia, infections, and myelokathexis
Wilms tumor 1
Wiskott-Aldrich syndrome
X-linked intellectual disability-hypotonic face syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
XFE progeroid syndrome
Xerocytosis
Xeroderma pigmentosum, group F
ABCB7 (Xq13.3);
ACD (16q22.1);
ADA2 (22q11.1);
AK2 (1p35.1);
ALAS2 (Xp11.21)
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Conditions
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Total conditions: 229
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Methodology
Total methods: 0
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