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BLOODGENETICS

GTR Lab ID: 320207, Last updated:2017-05-19

Personnel

Conditions and tests

  • Adenosine deaminase, elevated, hemolytic anemia due to1 test
  • Adenylate kinase deficiency, hemolytic anemia due to1 test
  • Anemia sideroblastic and spinocerebellar ataxia2 tests
  • ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Anemia, sideroblastic, 41 test
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive2 tests
  • Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive1 test
  • Atransferrinemia3 tests
  • Blood group, Gerbich system1 test
  • Congenital dyserythropoietic anemia1 test
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II2 tests
  • Congenital dyserythropoietic anemia, type III1 test
  • Congenital dyserythropoietic anemia, type IV2 tests
  • Congenital erythropoietic porphyria1 test
  • Deficiency of bisphosphoglycerate mutase1 test
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase2 tests
  • Dehydrated hereditary stomatocytosis 21 test
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Elliptocytosis 31 test
  • Erythrocytosis, familial, 21 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythropoietic protoporphyria1 test
  • Familial erythrocytosis, 11 test
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1 test
  • GATA-1-related thrombocytopenia with dyserythropoiesis1 test
  • Gilbert syndrome, susceptibility to1 test
  • Glutathione peroxidase deficiency1 test
  • Gluthathione synthetase deficiency1 test
  • Glycogen storage disease, type VII1 test
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 51 test
  • Hemolytic anemia1 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
  • Hemosiderosis, systemic, due to aceruloplasminemia1 test
  • Hereditary hemochromatosis1 test
  • Hereditary pyropoikilocytosis1 test
  • Hereditary sideroblastic anemia2 tests
  • Hereditary stomatocytosis1 test
  • HNSHA due to aldolase A deficiency1 test
  • Hydrops, lactic acidosis, and sideroblastic anemia1 test
  • Hyperferritinemia cataract syndrome2 tests
  • Hypochromic microcytic anemia with iron overload3 tests
  • Hypochromic microcytic anemia with iron overload 22 tests
  • Iron overload, autosomal dominant2 tests
  • L-ferritin deficiency1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Microcytic anemia3 tests
  • Myelodysplastic syndrome2 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Non sideroblastic anemia1 test
  • Ovalocytosis, southeast asian1 test
  • Phosphoglycerate kinase 1 deficiency1 test
  • Protoporphyria, erythropoietic, X-linked1 test
  • Pseudohyperkalemia, familial, 2, due to red cell leak1 test
  • Pyridoxine-responsive sideroblastic anemia1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Sideroblastic anemia 3, pyridoxine-refractory1 test
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1 test
  • Spherocytosis type 11 test
  • Spherocytosis type 21 test
  • Spherocytosis type 31 test
  • Spherocytosis type 41 test
  • Spherocytosis type 51 test
  • Stomatin-deficient cryohydrocytosis with neurologic defects1 test
  • Stomatocytosis I1 test
  • Triosephosphate isomerase deficiency1 test
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
  • Xerocytosis1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Mutation Confirmation

List of certifications/licenses

Certifications

  • EMQN, Number: HFE HEMOCHROMATOSIS, Expiration date: 2012-02-14
  • EMQN, Number: Certificate of Best Practice meeting Participation, Expiration date: 2014-05-15
  • EMQN, Number: DNA SEQ Full (Sanger sequencing), Expiration date: 2016-02-11
  • EMQN, Number: DNA-SEQ (Full), Expiration date: 2017-09-11
  • Healthcare and Clinical Genetic Laboratory authorized by the Gen, Number: ref: 75204, Expiration date: 2012-11-13

Participation in external programs

Standardization programs

  • Locus-specific Databases
  • Other

Data exchange Programs

  • Mutation-specific Databases

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