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BloodGenetics

General information

BloodGenetics

C/Verge de Guadalupe, 18 (Synlab Building)
Esplugues de Llobregat
Catalonia
Spain - 08950
https://bloodgenetics.com/
Organization ID: 320207

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 7

Gene

GeneSubmissionsLast Updated
HJV2Dec 16, 2021
LOC1136871751Dec 16, 2021
RACGAP12Jul 4, 2022
SLC11A22Mar 17, 2023
TFR21Dec 16, 2021

Condition

NameSubmissionsLast Updated
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive2Jul 4, 2022
Hemochromatosis type 2A2Dec 16, 2021
Hemochromatosis type 31Dec 16, 2021
Microcytic anemia with liver iron overload2Mar 17, 2023

Testing in GTR

Disease nameNumber of 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, X-linked2 tests
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
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
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
GLUT1 deficiency syndrome1 test
Gamma-glutamylcysteine synthetase deficiency1 test
Gilbert syndrome, susceptibility to1 test
Glioma susceptibility 12 tests
Glutamate-cysteine ligase deficiency1 test
Gluthathione peroxidase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease, type VII2 tests
HNSHA due to aldolase A deficiency2 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
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
Inherited glutathione synthetase deficiency2 tests
Intellectual disability, X-linked, syndromic, 352 tests
Intellectual disability, autosomal dominant 91 test
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