Hematología

ESTUDIOS DISPONIBLES:

  • Bcl 1
  • Bcl 2
  • BCR-ABL
  • Beta Talasemia
  • BRAF, mutación V600E
  • Factor II Protombina
  • Factor V Leiden
  • Hemocromatosis, mutación C282Y
  • Hemocromatosis, mutación H63D
  • Jak II, mutación V617 localizada en el exón 14
  • Jak II, secuenciación del exón 12
  • Mutación D816V
  • MTHFR
  • PAI (4G/5G)
  • PML – RAR alfa
  • Reordenamiento FIP1L1-PDGFRa

 

PANELES:

Panel Completo de Hematología
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary
ABCB7Anemia, sideroblastic, and spinocerebellar ataxia
ABCG5Sitosterolemia
ABCG8Sitosterolemia
ACTBBaraitser-Winter syndrome
ACTN1Bleeding disorder, platelet-
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial
AK2Reticular dysgenesis
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoietic
AMNMegaloblastic anemia-1, Norwegian
ANK1Spherocytosis
ANKRD26Thrombocytopenia
AP3B1Hermansky-Pudlak syndrome
ATMAtaxia-Telangiectasia, Breast cancer
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndrome
ATRXAlpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome
BLMBloom syndrome
BLOC1S3Hermansky-Pudlak syndrome
BLOC1S6Hermansky-Pudlak syndrome
BRCA2Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor
BRIP1Breast cancer, Fanconi anemia
C15ORF41Congenital dyserythropoietic anemia
CDAN1Anemia, dyserythropoietic congenital
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndrome
CEBPAAcute myeloid leukemia, familial
CSF2RASurfactant metabolism dysfunction, pulmonary
CTC1Cerebroretinal microangiopathy with calcifications and cysts
CTSCHaim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile
CUBNMegaloblastic anemia-1, Finnish
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome
CYCSThrombocytopenia
DKC1Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
DTNBP1Hermansky-Pudlak syndrome
ELANENeutropenia
EPB42Spherocytosis
ERCC4Fanconi anemia, Xeroderma pigmentosum
F2Prothrombin deficiency, congenital, Thrombophilia due to thrombin defect
F5Factor V deficiency, Thrombophilia due to activated protein C resistance
F7Factor VII deficiency
F8Hemophilia A
F9Hemophilia B, Thrombophilia, due to factor IX defect, Warfarin sensitivity
F10Factor X deficiency
F11Factor XI deficiency
F12Angioedema
F13A1Factor XIIIA deficiency
FANCAFanconi anemia
FANCBFanconi anemia
FANCCFanconi anemia
FANCD2Fanconi anemia
FANCEFanconi anemia
FANCFFanconia anemia
FANCGFanconi anemia
FANCIFanconi anemia
FANCLFanconi anemia
FANCMFanconi anemia
FASAutoimmune lymphoproliferative syndrome
FGAAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Familial visceral amyloidosis, Hypodysfibrinogenemia, congenital
FGBAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital
FGGAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, Hypodysfibrinogenemia, congenital
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
G6PC3Dursun syndrome, Neutropenia, severe congenital
G6PDGlucose-6-phosphate dehydrogenase deficiency
GATA1Anemia, without thrombocytopenia, Dyserythropoietic anemia with thrombocytopenia, Thrombocytopenia with beta-thalessemia,
GATA2Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome
GGCXPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiency
GP1BABernard-Soulier syndrome, Pseudo-von Willebrand disease
GP1BBBernard-Soulier syndrome, Giant platelet disorder, isolated
GP9Bernard-Soulier syndrome
GPIHemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
GPR143Nystagmus, congenital, Ocular albinism
GSSGlutathione synthetase deficiency
HAX1Neutropenia, severe congenital
HBA1Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)
HBA2Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)
HBBBeta-thalassemia, Other Thalassemias/Hemoglobinopathies, Sickle cell disease, Thalassemia-beta, dominant inclusion body
HFEHemochromatosis
HOXA11Radioulnar synostosis with amegakaryocytic thrombocytopenia
HPS1Hermansky-Pudlak syndrome
HPS3Hermansky-Pudlak syndrome
HPS4Hermansky-Pudlak syndrome
HPS5Hermansky-Pudlak syndrome
HPS6Hermansky-Pudlak syndrome
HRASCongenital myopathy with excess of muscle spindles, Costello syndrome
IFNGR2Immunodeficiency
ITGA2Fetal and neonatal alloimmune thrombocytopenia
ITGA2BGlanzmann thrombasthenia
ITGB3Bleeding disorder, platelet-, Glanzmann thrombasthenia, Thrombocytopenia, neonatal alloimmune
ITKLymphoproliferative syndrome
JAGN1Neutropenia, severe congenital
KLF1Anemia, dyserythropoietic congenital, Blood group, Lutheran inhibitor
KRASCardiofaciocutaneous syndrome, Noonan syndrome
LMAN1Combined factor V and VIII deficiency
LPIN2Majeed syndrome
LYSTChediak-Higashi syndrome
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia
MASTLThrombocytopenia
MLH1Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MPLAmegakaryocytic thrombocytopenia, Thrombocythemia
MSH2Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH6Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome
MTRMethylmalonic acidemia
MYH9Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome
MYO5AGriscelli syndrome
NBEAL2Gray platelet syndrome
NBNBreast cancer, Nijmegen breakage syndrome
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NHP2Dyskeratosis congenita
NOP10Dyskeratosis congenita
NRASNoonan syndrome
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentation
P2RY12Bleeding disorder, platelet-
PALB2Breast cancer, Fanconi anemia, Pancreatic cancer
PCPyruvate carboxylase deficiency
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency
PDHXPyruvate dehydrogenase E3-binding protein deficiency
PKLRPyruvate kinase deficiency
PMS2Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome
PRF1Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin
PROCThrombophilia, hereditary
PROS1Thrombophilia, hereditary
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
PUS1Mitochondrial myopathy and sideroblastic anemia
RAB27AElejalde syndrome, Griscelli syndrome
RAD51CBreast-ovarian cancer, familial, Fanconi anemia
RBM8AThrombocytopenia - absent radius
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
RPL5Diamond-Blackfan anemia
RPL11Diamond-Blackfan anemia
RPL15Diamond-Blackfan anemia
RPL35ADiamond-Blackfan anemia
RPS7Diamond-Blackfan anemia
RPS10Diamond-Blackfan anemia
RPS17Diamond-Blackfan anemia
RPS19Diamond-Blackfan anemia
RPS24Diamond-Blackfan anemia
RPS26Diamond-Blackfan anemia
RPS29Diamond-Blackfan anemia
RTEL1Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure
RUNX1Platelet disorder, familial, with associated myeloid malignancy
SBDSAplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome
SEC23BAnemia, dyserythropoietic congenital
SERPINC1Antithrombin III deficiency
SFTPBSurfactant metabolism dysfunction, pulmonary
SFTPCSurfactant metabolism dysfunction, pulmonary
SH2D1ALymphoproliferative syndrome
SLC4A1Cryohydrocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Spherocytosis
SLC19A2Thiamine-responsive megaloblastic anemia syndrome
SLC45A2Oculocutaneous albinism, Skin/hair/eye pigmentation
SLFN14Thrombocytopenia
SLX4Fanconi anemia
SPTA1Ellipsocytosis, Pyropoikilocytosis, Spherocytosis
SPTBAnemia, neonatal hemolytic, Ellipsocytosis, Spherocytosis
STX11Hemophagocytic lymphohistiocytosis, familial
STXBP2Hemophagocytic lymphohistiocytosis, familial
TBXA2RBleeding disorder, platelet-
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)
TERCAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
TERTAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
THBDHemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect
TINF2Dyskeratosis congenita, Revesz syndrome
TMPRSS6Iron-refractory iron deficiency anemia
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
TPI1Triosephosphate isomerase deficiency
TUBB1Macrothrombocytopenia
TYRAlbinism, oculocutaneous
TYRP1Albinism, oculocutaneous
UNC13DHemophagocytic lymphohistiocytosis, familial
USB1Poikiloderma with neutropenia
VKORC1Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiency
VWFVon Willebrand disease
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome
WRAP53Dyskeratosis congenita
XIAPLymphoproliferative syndrome
XRCC2Hereditary breast cancer
YARS2Myopathy, lactic acidosis, and sideroblastic anemia
Panel de Anemia

ABCB7

Anemia, sideroblastic, and spinocerebellar ataxia

ADAMTS13

Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial

ALAS2

Anemia, sideroblastic, Protoporphyria, erythropoietic

AMN

Megaloblastic anemia-1, Norwegian

ANK1

Spherocytosis

ATM

Ataxia-Telangiectasia, Breast cancer

ATR

Cutaneous telangiectasia and cancer syndrome, Seckel syndrome

ATRX

Alpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome

BLM

Bloom syndrome

BRCA2

Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor

BRIP1

Breast cancer, Fanconi anemia

C15ORF41

Congenital dyserythropoietic anemia

CDAN1

Anemia, dyserythropoietic congenital

CUBN

Megaloblastic anemia-1, Finnish

EPB42

Spherocytosis

ERCC4

Fanconi anemia, Xeroderma pigmentosum

FANCA

Fanconi anemia

FANCB

Fanconi anemia

FANCC

Fanconi anemia

FANCD2

Fanconi anemia

FANCE

Fanconi anemia

FANCF

Fanconia anemia

FANCG

Fanconi anemia

FANCI

Fanconi anemia

FANCL

Fanconi anemia

FANCM

Fanconi anemia

G6PD

Glucose-6-phosphate dehydrogenase deficiency

GATA1

Anemia, without thrombocytopenia, Dyserythropoietic anemia with thrombocytopenia, Thrombocytopenia with beta-thalessemia,

GPI

Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency

GSS

Glutathione synthetase deficiency

HBA1

Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)

HBA2

Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)

HBB

Beta-thalassemia, Other Thalassemias/Hemoglobinopathies, Sickle cell disease, Thalassemia-beta, dominant inclusion body

HFE

Hemochromatosis

KLF1

Anemia, dyserythropoietic congenital, Blood group, Lutheran inhibitor

LPIN2

Majeed syndrome

MTR

Methylmalonic acidemia

NBN

Breast cancer, Nijmegen breakage syndrome

PALB2

Breast cancer, Fanconi anemia, Pancreatic cancer

PC

Pyruvate carboxylase deficiency

PDHA1

Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency

PDHX

Pyruvate dehydrogenase E3-binding protein deficiency

PKLR

Pyruvate kinase deficiency

PUS1

Mitochondrial myopathy and sideroblastic anemia

RAD51C

Breast-ovarian cancer, familial, Fanconi anemia

RPL5

Diamond-Blackfan anemia

RPL11

Diamond-Blackfan anemia

RPL15

Diamond-Blackfan anemia

RPL35A

Diamond-Blackfan anemia

RPS7

Diamond-Blackfan anemia

RPS10

Diamond-Blackfan anemia

RPS17

Diamond-Blackfan anemia

RPS19

Diamond-Blackfan anemia

RPS24

Diamond-Blackfan anemia

RPS26

Diamond-Blackfan anemia

RPS29

Diamond-Blackfan anemia

SBDS

Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome

SEC23B

Anemia, dyserythropoietic congenital

SLC4A1

Cryohydrocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Spherocytosis

SLC19A2

Thiamine-responsive megaloblastic anemia syndrome

SLX4

Fanconi anemia

SPTA1

Ellipsocytosis, Pyropoikilocytosis, Spherocytosis

SPTB

Anemia, neonatal hemolytic, Ellipsocytosis, Spherocytosis

THBD

Hemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect

TMPRSS6

Iron-refractory iron deficiency anemia

TPI1

Triosephosphate isomerase deficiency

XRCC2

Hereditary breast cancer

YARS2

Myopathy, lactic acidosis, and sideroblastic anemia

Panel de Anemia de Diamond-Blackfan

GATA1

Anemia, without thrombocytopenia, Dyserythropoietic anemia with thrombocytopenia, Thrombocytopenia with beta-thalessemia,

RPL5

Diamond-Blackfan anemia

RPL11

Diamond-Blackfan anemia

RPL15

Diamond-Blackfan anemia

RPL35A

Diamond-Blackfan anemia

RPS7

Diamond-Blackfan anemia

RPS10

Diamond-Blackfan anemia

RPS17

Diamond-Blackfan anemia

RPS19

Diamond-Blackfan anemia

RPS24

Diamond-Blackfan anemia

RPS26

Diamond-Blackfan anemia

RPS29

Diamond-Blackfan anemia

Panel de Anemia de Fanconi

ATM

Ataxia-Telangiectasia, Breast cancer

ATR

Cutaneous telangiectasia and cancer syndrome, Seckel syndrome

BLM

Bloom syndrome

BRCA2

Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor

BRIP1

Breast cancer, Fanconi anemia

CXCR4

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome

ERCC4

Fanconi anemia, Xeroderma pigmentosum

FANCA

Fanconi anemia

FANCB

Fanconi anemia

FANCC

Fanconi anemia

FANCD2

Fanconi anemia

FANCE

Fanconi anemia

FANCF

Fanconia anemia

FANCG

Fanconi anemia

FANCI

Fanconi anemia

FANCL

Fanconi anemia

FANCM

Fanconi anemia

NBN

Breast cancer, Nijmegen breakage syndrome

PALB2

Breast cancer, Fanconi anemia, Pancreatic cancer

RAD51C

Breast-ovarian cancer, familial, Fanconi anemia

SLX4

Fanconi anemia

XRCC2

Hereditary breast cancer

Panel de Defectos Adquiridos de la Función Plaquetaria

AP3B1

Hermansky-Pudlak syndrome

BLOC1S3

Hermansky-Pudlak syndrome

BLOC1S6

Hermansky-Pudlak syndrome

DTNBP1

Hermansky-Pudlak syndrome

GP1BA

Bernard-Soulier syndrome, Pseudo-von Willebrand disease

GP1BB

Bernard-Soulier syndrome, Giant platelet disorder, isolated

GP9

Bernard-Soulier syndrome

HPS1

Hermansky-Pudlak syndrome

HPS3

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

HPS5

Hermansky-Pudlak syndrome

HPS6

Hermansky-Pudlak syndrome

ITGA2B

Glanzmann thrombasthenia

ITGB3

Bleeding disorder, platelet-, Glanzmann thrombasthenia, Thrombocytopenia, neonatal alloimmune

NBEAL2

Gray platelet syndrome

P2RY12

Bleeding disorder, platelet-

RUNX1

Platelet disorder, familial, with associated myeloid malignancy

TBXA2R

Bleeding disorder, platelet-

Panel de Deficiencia de Factores de Coagulación

F2

Prothrombin deficiency, congenital, Thrombophilia due to thrombin defect

F5

Factor V deficiency, Thrombophilia due to activated protein C resistance

F7

Factor VII deficiency

F8

Hemophilia A

F9

Hemophilia B, Thrombophilia, due to factor IX defect, Warfarin sensitivity

F10

Factor X deficiency

F11

Factor XI deficiency

F12

Angioedema

F13A1

Factor XIIIA deficiency

FGA

Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Familial visceral amyloidosis, Hypodysfibrinogenemia, congenital

FGB

Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital

FGG

Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, Hypodysfibrinogenemia, congenital

GGCX

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiency

LMAN1

Combined factor V and VIII deficiency

VKORC1

Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiency

VWF

Von Willebrand disease

Panel de Disqueratosis Congénita

AK2

Reticular dysgenesis

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

NHP2

Dyskeratosis congenita

NOP10

Dyskeratosis congenita

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

USB1

Poikiloderma with neutropenia

WRAP53

Dyskeratosis congenita

Panel de Insuficiencia de Médula Ósea

ACTB

Baraitser-Winter syndrome

AK2

Reticular dysgenesis

AP3B1

Hermansky-Pudlak syndrome

ATM

Ataxia-Telangiectasia, Breast cancer

ATR

Cutaneous telangiectasia and cancer syndrome, Seckel syndrome

BLM

Bloom syndrome

BLOC1S3

Hermansky-Pudlak syndrome

BLOC1S6

Hermansky-Pudlak syndrome

BRCA2

Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor

BRIP1

Breast cancer, Fanconi anemia

CDKN2A

Melanoma, familial, Melanoma-pancreatic cancer syndrome

CEBPA

Acute myeloid leukemia, familial

CSF2RA

Surfactant metabolism dysfunction, pulmonary

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

CTSC

Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile

CXCR4

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

DTNBP1

Hermansky-Pudlak syndrome

ELANE

Neutropenia

ERCC4

Fanconi anemia, Xeroderma pigmentosum

FANCA

Fanconi anemia

FANCB

Fanconi anemia

FANCC

Fanconi anemia

FANCD2

Fanconi anemia

FANCE

Fanconi anemia

FANCF

Fanconia anemia

FANCG

Fanconi anemia

FANCI

Fanconi anemia

FANCL

Fanconi anemia

FANCM

Fanconi anemia

FAS

Autoimmune lymphoproliferative syndrome

G6PC3

Dursun syndrome, Neutropenia, severe congenital

GATA1

Anemia, without thrombocytopenia, Dyserythropoietic anemia with thrombocytopenia, Thrombocytopenia with beta-thalessemia,

GATA2

Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome

HAX1

Neutropenia, severe congenital

HPS1

Hermansky-Pudlak syndrome

HPS3

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

HPS5

Hermansky-Pudlak syndrome

HPS6

Hermansky-Pudlak syndrome

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

IFNGR2

Immunodeficiency

ITK

Lymphoproliferative syndrome

JAGN1

Neutropenia, severe congenital

KRAS

Cardiofaciocutaneous syndrome, Noonan syndrome

LYST

Chediak-Higashi syndrome

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MLH1

Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome

MPL

Amegakaryocytic thrombocytopenia, Thrombocythemia

MSH2

Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome

MSH6

Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome

MYO5A

Griscelli syndrome

NBN

Breast cancer, Nijmegen breakage syndrome

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NHP2

Dyskeratosis congenita

NOP10

Dyskeratosis congenita

NRAS

Noonan syndrome

PALB2

Breast cancer, Fanconi anemia, Pancreatic cancer

PMS2

Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome

PRF1

Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin

PTPN11

LEOPARD syndrome, Metachondromatosis, Noonan syndrome

RAB27A

Elejalde syndrome, Griscelli syndrome

RAD51C

Breast-ovarian cancer, familial, Fanconi anemia

RECQL4

Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome

RPL5

Diamond-Blackfan anemia

RPL11

Diamond-Blackfan anemia

RPL15

Diamond-Blackfan anemia

RPL35A

Diamond-Blackfan anemia

RPS7

Diamond-Blackfan anemia

RPS10

Diamond-Blackfan anemia

RPS17

Diamond-Blackfan anemia

RPS19

Diamond-Blackfan anemia

RPS24

Diamond-Blackfan anemia

RPS26

Diamond-Blackfan anemia

RPS29

Diamond-Blackfan anemia

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

RUNX1

Platelet disorder, familial, with associated myeloid malignancy

SBDS

Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome

SH2D1A

Lymphoproliferative syndrome

SLX4

Fanconi anemia

STX11

Hemophagocytic lymphohistiocytosis, familial

STXBP2

Hemophagocytic lymphohistiocytosis, familial

TCIRG1

Osteopetrosis, severe neonatal or infantile forms (OPTB1)

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

TP53

Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma

UNC13D

Hemophagocytic lymphohistiocytosis, familial

USB1

Poikiloderma with neutropenia

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

WRAP53

Dyskeratosis congenita

XIAP

Lymphoproliferative syndrome

XRCC2

Hereditary breast cancer

Panel de Leucemia Hereditaria

ATM

Ataxia-Telangiectasia, Breast cancer

BLM

Bloom syndrome

BRCA2

Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor

CDKN2A

Melanoma, familial, Melanoma-pancreatic cancer syndrome

CEBPA

Acute myeloid leukemia, familial

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

ELANE

Neutropenia

FANCA

Fanconi anemia

GATA2

Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

KRAS

Cardiofaciocutaneous syndrome, Noonan syndrome

MLH1

Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome

MSH2

Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome

MSH6

Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome

NBN

Breast cancer, Nijmegen breakage syndrome

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NRAS

Noonan syndrome

PMS2

Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome

PTPN11

LEOPARD syndrome, Metachondromatosis, Noonan syndrome

RUNX1

Platelet disorder, familial, with associated myeloid malignancy

SBDS

Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

TP53

Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma

Panel de Linfohistiocitosis Hemafagocítica

FAS

Autoimmune lymphoproliferative syndrome

ITK

Lymphoproliferative syndrome

LYST

Chediak-Higashi syndrome

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MYO5A

Griscelli syndrome

PRF1

Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin

RAB27A

Elejalde syndrome, Griscelli syndrome

RECQL4

Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome

SH2D1A

Lymphoproliferative syndrome

STX11

Hemophagocytic lymphohistiocytosis, familial

STXBP2

Hemophagocytic lymphohistiocytosis, familial

UNC13D

Hemophagocytic lymphohistiocytosis, familial

XIAP

Lymphoproliferative syndrome

Panel de Neutropenia Congénita

ACTB

Baraitser-Winter syndrome

CSF2RA

Surfactant metabolism dysfunction, pulmonary

CTSC

Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile

ELANE

Neutropenia

G6PC3

Dursun syndrome, Neutropenia, severe congenital

GATA2

Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome

HAX1

Neutropenia, severe congenital

IFNGR2

Immunodeficiency

JAGN1

Neutropenia, severe congenital

LYST

Chediak-Higashi syndrome

SBDS

Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome

TCIRG1

Osteopetrosis, severe neonatal or infantile forms (OPTB1)

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

Panel de Síndrome de Bloom

BLM

Bloom syndrome

Panel de Síndrome de Hermansky Pudlak

ABCA3

Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary

AP3B1

Hermansky-Pudlak syndrome

BLOC1S3

Hermansky-Pudlak syndrome

BLOC1S6

Hermansky-Pudlak syndrome

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

DTNBP1

Hermansky-Pudlak syndrome

GPR143

Nystagmus, congenital, Ocular albinism

HPS1

Hermansky-Pudlak syndrome

HPS3

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

HPS5

Hermansky-Pudlak syndrome

HPS6

Hermansky-Pudlak syndrome

LYST

Chediak-Higashi syndrome

OCA2

Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentation

SFTPB

Surfactant metabolism dysfunction, pulmonary

SFTPC

Surfactant metabolism dysfunction, pulmonary

SLC45A2

Oculocutaneous albinism, Skin/hair/eye pigmentation

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

TYR

Albinism, oculocutaneous

TYRP1

Albinism, oculocutaneous

Panel de Trastornos Hemorrágicos / Coagulopatía

ABCG5

Sitosterolemia

ABCG8

Sitosterolemia

ACTN1

Bleeding disorder, platelet-

ADAMTS13

Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial

ANKRD26

Thrombocytopenia

AP3B1

Hermansky-Pudlak syndrome

BLOC1S3

Hermansky-Pudlak syndrome

BLOC1S6

Hermansky-Pudlak syndrome

CYCS

Thrombocytopenia

DTNBP1

Hermansky-Pudlak syndrome

F2

Prothrombin deficiency, congenital, Thrombophilia due to thrombin defect

F5

Factor V deficiency, Thrombophilia due to activated protein C resistance

F7

Factor VII deficiency

F8

Hemophilia A

F9

Hemophilia B, Thrombophilia, due to factor IX defect, Warfarin sensitivity

F10

Factor X deficiency

F11

Factor XI deficiency

F12

Angioedema

F13A1

Factor XIIIA deficiency

FGA

Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Familial visceral amyloidosis, Hypodysfibrinogenemia, congenital

FGB

Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital

FGG

Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, Hypodysfibrinogenemia, congenital

FLNA

Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects

GATA1

Anemia, without thrombocytopenia, Dyserythropoietic anemia with thrombocytopenia, Thrombocytopenia with beta-thalessemia,

GGCX

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiency

GP1BA

Bernard-Soulier syndrome, Pseudo-von Willebrand disease

GP1BB

Bernard-Soulier syndrome, Giant platelet disorder, isolated

GP9

Bernard-Soulier syndrome

HOXA11

Radioulnar synostosis with amegakaryocytic thrombocytopenia

HPS1

Hermansky-Pudlak syndrome

HPS3

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

HPS5

Hermansky-Pudlak syndrome

HPS6

Hermansky-Pudlak syndrome

ITGA2B

Glanzmann thrombasthenia

ITGB3

Bleeding disorder, platelet-, Glanzmann thrombasthenia, Thrombocytopenia, neonatal alloimmune

LMAN1

Combined factor V and VIII deficiency

MASTL

Thrombocytopenia

MPL

Amegakaryocytic thrombocytopenia, Thrombocythemia

MYH9

Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome

NBEAL2

Gray platelet syndrome

P2RY12

Bleeding disorder, platelet-

PROC

Thrombophilia, hereditary

PROS1

Thrombophilia, hereditary

RBM8A

Thrombocytopenia - absent radius

RUNX1

Platelet disorder, familial, with associated myeloid malignancy

SERPINC1

Antithrombin III deficiency

SLFN14

Thrombocytopenia

TBXA2R

Bleeding disorder, platelet-

THBD

Hemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect

TUBB1

Macrothrombocytopenia

VKORC1

Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiency

VWF

Von Willebrand disease

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

Panel de Trastornos de la Membrana de Glóbulos Rojos

ANK1

Spherocytosis

EPB42

Spherocytosis

SLC4A1

Cryohydrocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Spherocytosis

SPTA1

Ellipsocytosis, Pyropoikilocytosis, Spherocytosis

SPTB

Anemia, neonatal hemolytic, Ellipsocytosis, Spherocytosis

Panel de Trombocitopenia

ABCG5

Sitosterolemia

ABCG8

Sitosterolemia

ACTN1

Bleeding disorder, platelet-

ADAMTS13

Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial

ANKRD26

Thrombocytopenia

CYCS

Thrombocytopenia

FLNA

Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects

GATA1

Anemia, without thrombocytopenia, Dyserythropoietic anemia with thrombocytopenia, Thrombocytopenia with beta-thalessemia,

GP1BA

Bernard-Soulier syndrome, Pseudo-von Willebrand disease

GP1BB

Bernard-Soulier syndrome, Giant platelet disorder, isolated

GP9

Bernard-Soulier syndrome

HOXA11

Radioulnar synostosis with amegakaryocytic thrombocytopenia

ITGA2

Fetal and neonatal alloimmune thrombocytopenia

ITGA2B

Glanzmann thrombasthenia

ITGB3

Bleeding disorder, platelet-, Glanzmann thrombasthenia, Thrombocytopenia, neonatal alloimmune

MASTL

Thrombocytopenia

MPL

Amegakaryocytic thrombocytopenia, Thrombocythemia

MYH9

Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome

NBEAL2

Gray platelet syndrome

RBM8A

Thrombocytopenia - absent radius

RUNX1

Platelet disorder, familial, with associated myeloid malignancy

SLFN14

Thrombocytopenia

THBD

Hemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect

TUBB1

Macrothrombocytopenia

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

 

Clasificación de Variantes

 

EXOMA.

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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