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GTR Home > Laboratories > BloodGenetics

BloodGenetics

GTR Lab ID: 320207, Last updated:2023-08-10

Personnel

Conditions and tests

  • Acquired polycythemia vera1 test
  • Adult-onset autosomal recessive sideroblastic anemia1 test
  • Anemia, hypochromic microcytic with iron overload1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive1 test
  • Atransferrinemia2 tests
  • Autism2 tests
  • Autism spectrum disorder2 tests
  • Autism, susceptibility to, X-linked 52 tests
  • Autosomal dominant secondary polycythemia2 tests
  • Autosomal dominant sideroblastic anemia1 test
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene1 test
  • Bardet-Biedl syndrome 111 test
  • Bernard Soulier syndrome1 test
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
  • Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1 test
  • Cernunnos-XLF deficiency2 tests
  • Chorea-acanthocytosis1 test
  • Chuvash polycythemia1 test
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital dyserythropoietic anemia1 test
  • Congenital dyserythropoietic anemia type 42 tests
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II2 tests
  • Congenital dyserythropoietic anemia, type III1 test
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
  • Cutaneous porphyria2 tests
  • Deafness dystonia syndrome1 test
  • Deficiency of bisphosphoglycerate mutase2 tests
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase2 tests
  • Dehydrated hereditary stomatocytosis 21 test
  • Diamond-Blackfan anemia 12 tests
  • Diamond-Blackfan anemia 102 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 132 tests
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 162 tests
  • Diamond-Blackfan anemia 172 tests
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 42 tests
  • Diamond-Blackfan anemia 52 tests
  • Diamond-Blackfan anemia 62 tests
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diamond-Blackfan anemia-like1 test
  • Dyskeratosis congenita, autosomal dominant 12 tests
  • Dyskeratosis congenita, autosomal dominant 62 tests
  • Dyskeratosis congenita, autosomal recessive 12 tests
  • Dyskeratosis congenita, autosomal recessive 32 tests
  • Dyskeratosis congenita, autosomal recessive 52 tests
  • Dyskeratosis congenita, autosomal recessive 62 tests
  • Dyskeratosis congenita, X-linked2 tests
  • Dystonia 28, childhood-onset1 test
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
  • Elliptocytosis 11 test
  • Elliptocytosis 31 test
  • Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrocytosis, familial, 51 test
  • Erythropoietic protoporphyria2 tests
  • Familial gastric type 1 neuroendocrine tumor2 tests
  • Familial pseudohyperkalemia1 test
  • Fanconi anemia complementation group A2 tests
  • Fanconi anemia complementation group B2 tests
  • Fanconi anemia complementation group C2 tests
  • Fanconi anemia complementation group D12 tests
  • Fanconi anemia complementation group D22 tests
  • Fanconi anemia complementation group E2 tests
  • Fanconi anemia complementation group F2 tests
  • Fanconi anemia complementation group G2 tests
  • Fanconi anemia complementation group I2 tests
  • Fanconi anemia complementation group J2 tests
  • Fanconi anemia complementation group L2 tests
  • Fanconi anemia complementation group N2 tests
  • Fanconi anemia complementation group O2 tests
  • Fanconi anemia complementation group P2 tests
  • Fanconi anemia complementation group Q2 tests
  • Fanconi anemia complementation group R2 tests
  • Fanconi anemia complementation group T2 tests
  • Fanconi anemia complementation group U2 tests
  • Fanconi anemia complementation group V2 tests
  • Fanconi anemia, complementation group M2 tests
  • Fanconi anemia, complementation group S2 tests
  • Fanconi anemia, complementation group W2 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
  • Fucosidosis1 test
  • Gamma-glutamylcysteine synthetase deficiency1 test
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
  • Gilbert syndrome, susceptibility to1 test
  • Glioma susceptibility 12 tests
  • Glioma susceptibility 92 tests
  • GLUT1 deficiency syndrome1 test
  • Glutamate-cysteine ligase deficiency1 test
  • Gluthathione peroxidase deficiency1 test
  • Gluthathione synthetase deficiency2 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • Glycogen storage disease, type VII2 tests
  • Heme oxygenase 1 deficiency1 test
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 52 tests
  • Hemolytic anemia1 test
  • Hemolytic anemia due to adenylate kinase deficiency2 tests
  • Hemolytic anemia due to erythrocyte adenosine deaminase overproduction1 test
  • Hemolytic anemia due to glucophosphate isomerase deficiency1 test
  • Hemolytic anemia due to glutathione reductase deficiency1 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
  • Hemosiderosis, systemic, due to aceruloplasminemia1 test
  • Hereditary cryohydrocytosis with reduced stomatin1 test
  • Hereditary elliptocytosis2 tests
  • Hereditary hemochromatosis1 test
  • Hereditary hyperferritinemia with congenital cataracts3 tests
  • Hereditary methemoglobinemia1 test
  • Hereditary sideroblastic anemia1 test
  • Hereditary spastic paraplegia 281 test
  • Hereditary spastic paraplegia 301 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 41 test
  • Hereditary spastic paraplegia 501 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 741 test
  • Hereditary spherocytosis1 test
  • Hereditary spherocytosis type 11 test
  • Hereditary spherocytosis type 31 test
  • Hereditary spherocytosis type 51 test
  • Hereditary stomatocytosis1 test
  • HNSHA due to aldolase A deficiency2 tests
  • Homozygous familial hypercholesterolemia1 test
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome1 test
  • Hypermanganesemia with dystonia 21 test
  • Hyperostosis cranialis interna1 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, X-linked, syndromic, 352 tests
  • Iron-refractory iron deficiency anemia1 test
  • Jaberi-Elahi syndrome1 test
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • L-ferritin deficiency1 test
  • Lucey-Driscoll syndrome1 test
  • Majeed syndrome1 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Melanoma, cutaneous malignant, susceptibility to, 12 tests
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1 test
  • Microcytic anemia1 test
  • Microcytic anemia with liver iron overload1 test
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 31 test
  • Myelodysplastic syndrome1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 31 test
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodegeneration with brain iron accumulation 71 test
  • Neurodegeneration with brain iron accumulation 81 test
  • Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia1 test
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neuropathy, hereditary sensory, type 1D1 test
  • Neuropathy, hereditary sensory, type 2C1 test
  • Overhydrated hereditary stomatocytosis2 tests
  • Paget disease of bone 31 test
  • Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Platelet-type bleeding disorder 171 test
  • Polyarteritis nodosa2 tests
  • Primary familial polycythemia due to EPO receptor mutation1 test
  • Pyridoxine-responsive sideroblastic anemia1 test
  • Pyruvate kinase deficiency of red cells2 tests
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Sarcotubular myopathy1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
  • Severe congenital hypochromic anemia with ringed sideroblasts2 tests
  • Sideroblastic anemia 22 tests
  • Sideroblastic anemia 31 test
  • Sitosterolemia1 test
  • Sneddon syndrome2 tests
  • Sterol carrier protein 2 deficiency1 test
  • Striatonigral degeneration, childhood-onset1 test
  • Symptomatic form of hemochromatosis type 11 test
  • Triose phosphate isomerase deficiency1 test
  • Triosephosphate isomerase deficiency1 test
  • Tumor predisposition syndrome 32 tests
  • Vasculitis due to ADA2 deficiency2 tests
  • Wilson disease1 test
  • X-linked erythropoietic protoporphyria1 test
  • X-linked sideroblastic anemia 12 tests
  • X-linked sideroblastic anemia with ataxia2 tests
  • Xerocytosis2 tests

List of services

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

List of certifications/licenses

Certifications

  • EMQN, Number: DNA SEQUENCING -SANGER, Expiration date: 2025-07-31
  • EMQN, Number: NextGen DNA Sequencing (vGermline), Expiration date: 2025-07-31
  • Healthcare and Clinical Genetic Laboratory authorized by the Gen, Number: ref: E08700612, Expiration date: 2040-12-31

Participation in external programs

Standardization programs

  • Locus-specific Databases
  • Other

Data exchange Programs

  • Mutation-specific Databases

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.