qGenEx THi. Panel Trastornos del Hierro

Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.

qGenEx THi analiza 46 genes asociados a trastornos del hierro usando secuenciación de exoma completo mediante NGS.

Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
GeneMedian coverage% covered > 10x% covered > 20xAssociated Phenotype description and OMIM disease ID 
ABCB1070.30.780.7No OMIM phenotype614858
ABCB1070.30.780.7?anemia with protoporphyrin IX (PPIX) accumulation (Chen et al, (2009), Yamamoto et al, (2014)),614858
ABCB71560.990.97Anemia, sideroblastic, with ataxia,301310
ALAS2107.40.990.96Anemia, sideroblastic, 1300751
ALAS2107.40.990.96Protoporphyria, erythropoietic, X-linked,300752
ATP4A172.80.990.98No OMIM-phenotype300752
ATP4A172.80.990.98Gastric neuroendocrine tumor, type 1 (Calvete -2015 Hum Mol Genet 24,2914)300752
BMP6111.40.920.89No OMIM phenotype300752
BMP6111.40.920.89?hemochromatosis (Babitt et al, (2007), Kautz et al, (2008)),300752
C15orf41144.510.99Dyserythropoietic anemia, congenital, type Ib,615631
CCL2151.511{Coronary artery disease, modifier of}615631
CCL2151.511{HIV-1, resistance to},609423
CCL2151.511{Mycobacterium tuberculosis, susceptibility to},607948
CCL2151.511{Spina bifida, susceptibility to},182940
CDAN1113.10.980.96Dyserythropoietic anemia, congenital, type Ia,224120
CP1410.940.9Cerebellar ataxia,604290
CP1410.940.9Hemosiderosis, systemic, due to aceruloplasminemia,604290
CP1410.940.9[Hypoceruloplasminemia, hereditary],604290
CYBRD114910.99No OMIM phenotype604290
CYBRD114910.99Iron overload (Zaahl -2004 Hum Genet 115,409604290
CYBRD114910.99{Haemochromatosis,phenotype modifier,association with} (Constantine -2009 Br J Haematol 147,140)604290
EXOC61010.960.9No OMIM phenotype604290
EXOC61010.960.9?Hemoglobin deficit (hypochromic anemia) (Lim et al, (2005), Fleming et al, (2005))604290
FECH142.40.990.99Protoporphyria, erythropoietic, autosomal recessive,177000
FTH199.10.980.88?Hemochromatosis, type 5615517
FTL131.30.990.92Hyperferritinemia-cataract syndrome,600886
FTL131.30.990.92L-ferritin deficiency, dominant and recessive,615604
FTL131.30.990.92Neurodegeneration with brain iron accumulation 3606159
FXN86.10.860.76Friedreich ataxia with retained reflexes,229300
FXN86.10.860.76Friedreich ataxia,229300
GATA1950.990.97Anemia, X-linked, with/without neutropenia and/or platelet abnormalities,300835
GATA1950.990.97Leukemia, megakaryoblastic, with or without Down syndrome, somatic,190685
GATA1950.990.97Thrombocytopenia with beta-thalassemia, X-linked,314050
GATA1950.990.97Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,300367
GLRX5102.20.930.86Anemia, sideroblastic, 3 pyridoxine-refractory,616860
GLRX5102.20.930.86Spasticity, childhood-onset, with hyperglycinemia,616859
HAMP192.711Hemochromatosis, type 2B,613313
HEPH100.90.990.95No OMIM phenotype613313
HEPH100.90.990.95?anemia (Vulpe et al, (1999), Anderson et al, (2002), Chen et al, (2004)),613313
HFE1550.990.99Hemochromatosis,235200
HFE1550.990.99[Transferrin serum level QTL2],614193
HFE1550.990.99{Alzheimer disease, susceptibility to},104300
HFE1550.990.99{Microvascular complications of diabetes 7},612635
HFE1550.990.99{Porphyria cutanea tarda, susceptibility to},176100
HFE1550.990.99{Porphyria variegata, susceptibility to},176200
HFE2133.30.990.99Hemochromatosis type 2A,602390
HMOX1142.10.970.9Heme oxygenase-1 deficiency,614034
HMOX1142.10.970.9{Pulmonary disease, chronic obstructive, susceptibility to},606963
HSCB96.60.980.94No OMIM phenotype606963
HSCB96.60.980.94?non-syndromic CSA (M,D, Fleming (manuscript in preparation)),606963
HSPA997.50.890.85Anemia, sideroblastic, 4182170
HSPA997.50.890.85Even-plus syndrome,616854
KIF23187.30.950.93No OMIM phenotype616854
KIF23187.30.950.93?Congenital dyserythropoietic anemia type III (CDAIII, Liljeholm et al, (2013)),616854
KLF160.90.920.85Blood group--Lutheran inhibitor,111150
KLF160.90.920.85Dyserythropoietic anemia, congenital, type IV,613673
KLF160.90.920.85[Hereditary persistence of fetal hemoglobin],613566
NCOA4118.30.940.9?Thyroid cancer,nonmedullary,1},188550
NDUFB11101.40.940.84Linear skin defects with multiple congenital anomalies 3300952
PANK2177.50.990.96HARP syndrome,607236
PANK2177.50.990.96Neurodegeneration with brain iron accumulation 1234200
PUS1150.80.990.96Myopathy, lactic acidosis, and sideroblastic anemia 1600462
SEC23B185.20.970.96Cowden syndrome 7616858
SEC23B185.20.970.96Dyserythropoietic anemia, congenital, type II,224100
SFXN4155.30.990.98Combined oxidative phosphorylation deficiency 18615578
SLC11A2146.510.99Anemia, hypochromic microcytic, with iron overload 1206100
SLC19A2128.50.990.98Thiamine-responsive megaloblastic anemia syndrome,249270
SLC25A37191.511No OMIM phenotype249270
SLC25A37191.511?anemia and disruptions in ISC biogenesis, inhibition protoporphyrin biosynthesis (Shaw et al, -2006249270
SLC25A37191.511erythropoietic protophyria (Wang et al, (2011))249270
SLC25A38117.70.990.96Anemia, sideroblastic, 2 pyridoxine-refractory,205950
SLC40A11640.990.99Hemochromatosis, type 4606069
SLC46A1105.40.980.94Folate malabsorption, hereditary,229050
STEAP3186.710.99?Anemia, hypochromic microcytic, with iron overload 2615234
TF143.211Atransferrinemia,209300
TFR2105.90.990.95Hemochromatosis, type 3604250
TFRC177.70.990.99Immunodeficiency 46616740
TMEM14C14010.99No OMIM phenotype616740
TMEM14C14010.99?combined porphyria and anemia, severe pathogenic effects are lethal but mild defects might modulate616740
TMEM14C14010.99existing anemia and porphyria (Paw et al, (2013), Yien et al, (2014)),616740
TMPRSS6115.40.990.99Iron-refractory iron deficiency anemia,206200
UROS119.911Porphyria, congenital erythropoietic,263700
YARS2186.80.990.98Myopathy, lactic acidosis, and sideroblastic anemia 2613561

Un análisis para cada médico especialista… y para todos.

Descarga el consentimiento informado AQUÍ

Accede a la plataforma de pedidos Pedido sin plataforma
¿Cómo solicitar un test?
1) Preparar la hoja de solicitud del test

Cumplimentar toda la información disponible, especialmente fecha de nacimiento y sexo. Puede ser desde la plataforma (intranet) de pedidos, o bien mediante el documento en PDF.

2) Imprimir la hoja de solicitud.

Una vez debidamente cumplimentada, imprimir y firmar.

3) Recoger la muestra correspondiente.

Destacar la importancia de identificar correctamente la muestra con el nombre o identificador indicado en la solicitud.

4) Preparar adecuadamente para el envío.

Proteger la muestra biológica y adjuntar la hoja de solicitud y el consentimiento informado.

5) Solicitar la recogida de la muestra al 932 301 270
Requisitos de las muestras biológicas
  • Sangre EDTA: 1 tubo de 3-5mL (niños 1mL mínimo).
  • Alternativamente se puede solicitar kit de recogida de saliva o células bucales.
  • Sangre en papel: un mínimo de 10 spots en tarjeta Guthrie o papel de filtro.
Preparación para el envío
Llámenos al 932 301 270 cuando tenga todo preparado y pasaremos a recoger sus muestras.

Las muestras de sangre en EDTA, ADN purificado, saliva y sangre en papel son estables a temperatura ambiente durante 3 o 4 días. Las muestras pueden mandarse, convenientemente protegidas, por correo ordinario o mensajería.