BloodGenetics
General information
BloodGenetics
C/Verge de Guadalupe, 18 (Synlab Building)
Esplugues de Llobregat
Catalonia
Spain - 08950
https://bloodgenetics.com/
Organization ID: 320207
C/Verge de Guadalupe, 18 (Synlab Building)
Esplugues de Llobregat
Catalonia
Spain - 08950
https://bloodgenetics.com/
Organization ID: 320207
Personnel
- Natalia Capdevila Pelejero, Staff
Phone: +34 636147238
Email: technician.05@bloodgenetics.com - Xenia Ferrer, Staff
Phone: +34 636147238
Email: xenia.ferrer@bloodgenetics.com - Santiago Perez, Staff
Phone: +34 636147238
Email: sperez@bloodgenetics.com - Mayka Sanchez, Lab Associate Director
Phone: +34 636147238
Email: msanchez@bloodgenetics.com
Contact note: info@bloodgenetics.com - Pau Tomas, Staff
Phone: +34 636147238
Email: ptomas@bloodgenetics.com - Cristian Tornador, CEO
Phone: +34 636147238
Email: ctornador@bloodgenetics.com
Contact note: info@bloodgenetics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
Gene | Submissions | Last Updated |
---|---|---|
HJV | 2 | Dec 16, 2021 |
LOC113687175 | 1 | Dec 16, 2021 |
RACGAP1 | 2 | Jul 4, 2022 |
SLC11A2 | 2 | Mar 17, 2023 |
TFR2 | 1 | Dec 16, 2021 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive | 2 | Jul 4, 2022 |
Hemochromatosis type 2A | 2 | Dec 16, 2021 |
Hemochromatosis type 3 | 1 | Dec 16, 2021 |
Microcytic anemia with liver iron overload | 2 | Mar 17, 2023 |
Testing in GTR
Disease name | Number of tests |
---|---|
Acquired polycythemia vera | 1 test |
Adult-onset autosomal recessive sideroblastic anemia | 1 test |
Anemia, hypochromic microcytic with iron overload | 1 test |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 test |
Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive | 1 test |
Atransferrinemia | 2 tests |
Autism | 2 tests |
Autism spectrum disorder | 2 tests |
Autism, susceptibility to, X-linked 5 | 2 tests |
Autosomal dominant secondary polycythemia | 2 tests |
Autosomal dominant sideroblastic anemia | 1 test |
Autosomal recessive Kenny-Caffey syndrome | 1 test |
Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene | 1 test |
Bardet-Biedl syndrome 11 | 1 test |
Bernard Soulier syndrome | 1 test |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 1 test |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | 1 test |
Cernunnos-XLF deficiency | 2 tests |
Chorea-acanthocytosis | 1 test |
Chuvash polycythemia | 1 test |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 test |
Congenital dyserythropoietic anemia | 1 test |
Congenital dyserythropoietic anemia type 4 | 2 tests |
Congenital dyserythropoietic anemia, type I | 2 tests |
Congenital dyserythropoietic anemia, type II | 2 tests |
Congenital dyserythropoietic anemia, type III | 1 test |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 test |
Cutaneous porphyria | 2 tests |
Deafness dystonia syndrome | 1 test |
Deficiency of bisphosphoglycerate mutase | 2 tests |
Deficiency of cytochrome-b5 reductase | 1 test |
Deficiency of ferroxidase | 2 tests |
Dehydrated hereditary stomatocytosis 2 | 1 test |
Diamond-Blackfan anemia 1 | 2 tests |
Diamond-Blackfan anemia 10 | 2 tests |
Diamond-Blackfan anemia 11 | 2 tests |
Diamond-Blackfan anemia 12 | 2 tests |
Diamond-Blackfan anemia 13 | 2 tests |
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 2 tests |
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 2 tests |
Diamond-Blackfan anemia 16 | 2 tests |
Diamond-Blackfan anemia 17 | 2 tests |
Diamond-Blackfan anemia 3 | 2 tests |
Diamond-Blackfan anemia 4 | 2 tests |
Diamond-Blackfan anemia 5 | 2 tests |
Diamond-Blackfan anemia 6 | 2 tests |
Diamond-Blackfan anemia 7 | 2 tests |
Diamond-Blackfan anemia 8 | 2 tests |
Diamond-Blackfan anemia 9 | 2 tests |
Diamond-Blackfan anemia-like | 1 test |
Dyskeratosis congenita, X-linked | 2 tests |
Dyskeratosis congenita, autosomal dominant 1 | 2 tests |
Dyskeratosis congenita, autosomal dominant 6 | 2 tests |
Dyskeratosis congenita, autosomal recessive 1 | 2 tests |
Dyskeratosis congenita, autosomal recessive 3 | 2 tests |
Dyskeratosis congenita, autosomal recessive 5 | 2 tests |
Dyskeratosis congenita, autosomal recessive 6 | 2 tests |
Dystonia 28, childhood-onset | 1 test |
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 1 test |
Elliptocytosis 1 | 1 test |
Elliptocytosis 3 | 1 test |
Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 test |
Erythrocytosis, familial, 3 | 1 test |
Erythrocytosis, familial, 4 | 1 test |
Erythrocytosis, familial, 5 | 1 test |
Erythropoietic protoporphyria | 2 tests |
Familial gastric type 1 neuroendocrine tumor | 2 tests |
Familial pseudohyperkalemia | 1 test |
Fanconi anemia complementation group A | 2 tests |
Fanconi anemia complementation group B | 2 tests |
Fanconi anemia complementation group C | 2 tests |
Fanconi anemia complementation group D1 | 2 tests |
Fanconi anemia complementation group D2 | 2 tests |
Fanconi anemia complementation group E | 2 tests |
Fanconi anemia complementation group F | 2 tests |
Fanconi anemia complementation group G | 2 tests |
Fanconi anemia complementation group I | 2 tests |
Fanconi anemia complementation group J | 2 tests |
Fanconi anemia complementation group L | 2 tests |
Fanconi anemia complementation group N | 2 tests |
Fanconi anemia complementation group O | 2 tests |
Fanconi anemia complementation group P | 2 tests |
Fanconi anemia complementation group Q | 2 tests |
Fanconi anemia complementation group R | 2 tests |
Fanconi anemia complementation group T | 2 tests |
Fanconi anemia complementation group U | 2 tests |
Fanconi anemia complementation group V | 2 tests |
Fanconi anemia, complementation group M | 2 tests |
Fanconi anemia, complementation group S | 2 tests |
Fanconi anemia, complementation group W | 2 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 test |
Fucosidosis | 1 test |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 1 test |
GLUT1 deficiency syndrome | 1 test |
Gamma-glutamylcysteine synthetase deficiency | 1 test |
Gilbert syndrome, susceptibility to | 1 test |
Glioma susceptibility 1 | 2 tests |
Glutamate-cysteine ligase deficiency | 1 test |
Gluthathione peroxidase deficiency | 1 test |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
Glycogen storage disease, type VII | 2 tests |
HNSHA due to aldolase A deficiency | 2 tests |
Heme oxygenase 1 deficiency | 1 test |
Hemochromatosis type 2A | 2 tests |
Hemochromatosis type 2B | 2 tests |
Hemochromatosis type 3 | 2 tests |
Hemochromatosis type 4 | 2 tests |
Hemochromatosis type 5 | 2 tests |
Hemolytic anemia | 1 test |
Hemolytic anemia due to adenylate kinase deficiency | 2 tests |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | 1 test |
Hemolytic anemia due to glucophosphate isomerase deficiency | 1 test |
Hemolytic anemia due to glutathione reductase deficiency | 1 test |
Hemolytic anemia due to hexokinase deficiency | 1 test |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 2 tests |
Hemosiderosis, systemic, due to aceruloplasminemia | 1 test |
Hereditary cryohydrocytosis with reduced stomatin | 1 test |
Hereditary elliptocytosis | 2 tests |
Hereditary hemochromatosis | 1 test |
Hereditary hyperferritinemia with congenital cataracts | 3 tests |
Hereditary methemoglobinemia | 1 test |
Hereditary sideroblastic anemia | 1 test |
Hereditary spastic paraplegia 28 | 1 test |
Hereditary spastic paraplegia 30 | 1 test |
Hereditary spastic paraplegia 3A | 1 test |
Hereditary spastic paraplegia 4 | 1 test |
Hereditary spastic paraplegia 50 | 1 test |
Hereditary spastic paraplegia 5A | 1 test |
Hereditary spastic paraplegia 74 | 1 test |
Hereditary spherocytosis | 1 test |
Hereditary spherocytosis type 1 | 1 test |
Hereditary spherocytosis type 3 | 1 test |
Hereditary spherocytosis type 5 | 1 test |
Hereditary stomatocytosis | 1 test |
Homozygous familial hypercholesterolemia | 1 test |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 1 test |
Hypermanganesemia with dystonia 2 | 1 test |
Hyperostosis cranialis interna | 1 test |
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 1 test |
Hypoparathyroidism-retardation-dysmorphism syndrome | 1 test |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 test |
Inherited glutathione synthetase deficiency | 2 tests |
Intellectual disability, X-linked, syndromic, 35 | 2 tests |
Intellectual disability, autosomal dominant 9 | 1 test |
Iron-refractory iron deficiency anemia | 1 test |
Jaberi-Elahi syndrome | 1 test |
Kabuki syndrome 1 | 1 test |
Kabuki syndrome 2 | 1 test |
L-ferritin deficiency | 1 test |
Lucey-Driscoll syndrome | 1 test |
Majeed syndrome | 1 test |
McLeod neuroacanthocytosis syndrome | 1 test |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 1 | 2 tests |
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 1 test |
Microcytic anemia | 1 test |
Microcytic anemia with liver iron overload | 1 test |
Multiple mitochondrial dysfunctions syndrome 1 | 1 test |
Multiple mitochondrial dysfunctions syndrome 3 | 1 test |
Myelodysplastic syndrome | 1 test |
Myopathy, lactic acidosis, and sideroblastic anemia | 1 test |
Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 test |
Myopathy, lactic acidosis, and sideroblastic anemia 3 | 1 test |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 test |
Neurodegeneration with brain iron accumulation | 1 test |
Neurodegeneration with brain iron accumulation 6 | 1 test |
Neurodegeneration with brain iron accumulation 7 | 1 test |
Neurodegeneration with brain iron accumulation 8 | 1 test |
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 1 test |
Neuropathy, hereditary sensory and autonomic, type 2A | 1 test |
Neuropathy, hereditary sensory, type 1D | 1 test |
Neuropathy, hereditary sensory, type 2C | 1 test |
Overhydrated hereditary stomatocytosis | 2 tests |
Paget disease of bone 3 | 1 test |
Pancreatic insufficiency-anemia-hyperostosis syndrome | 1 test |
Paroxysmal nocturnal hemoglobinuria 1 | 1 test |
Platelet-type bleeding disorder 17 | 1 test |
Polyarteritis nodosa | 2 tests |
Primary familial polycythemia due to EPO receptor mutation | 1 test |
Pyridoxine-responsive sideroblastic anemia | 1 test |
Pyruvate kinase deficiency of red cells | 2 tests |
Rhizomelic chondrodysplasia punctata type 2 | 1 test |
Sarcotubular myopathy | 1 test |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
Severe congenital hypochromic anemia with ringed sideroblasts | 2 tests |
Sideroblastic anemia 2 | 2 tests |
Sideroblastic anemia 3 | 1 test |
Sitosterolemia | 1 test |
Sneddon syndrome | 2 tests |
Sterol carrier protein 2 deficiency | 1 test |
Striatonigral degeneration, childhood-onset | 1 test |
Symptomatic form of hemochromatosis type 1 | 1 test |
Triose phosphate isomerase deficiency | 1 test |
Triosephosphate isomerase deficiency | 1 test |
Tumor predisposition syndrome 3 | 2 tests |
Vasculitis due to ADA2 deficiency | 2 tests |
Wilson disease | 1 test |
X-linked erythropoietic protoporphyria | 1 test |
X-linked sideroblastic anemia 1 | 2 tests |
X-linked sideroblastic anemia with ataxia | 2 tests |
Xerocytosis | 2 tests |