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GenetischePanel-Diagnostik

ErkrankungSeltene hämatologische neoplastische Syndrome

Zusammenfassung

ID
HP3636
Anzahl Gene
79
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
167,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ANKRD265133AD und/oder SMu
ATM9171AD und/oder AR und/oder SMu und/oder Sus
BLM4254AR und/oder Sus
BRCA15592AD und/oder AR und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
CBL2721AD und/oder SMu
CEBPA1077AD und/oder SMu
CTC13654AR
DKC11545XLR
DOCK86300AR
ELANE804AD
ERCC42751AR
ETV61359Gen Fusion
FANCA4368AR und/oder Sus
FANCB2580XLR und/oder Sus
FANCC1677AR und/oder Sus
FANCD24416AR und/oder Sus
FANCE1611AR und/oder Sus
FANCF1125AR und/oder Sus
FANCG1869AR und/oder Sus
FANCI3987AR und/oder Sus
FANCL1128AR und/oder Sus
FANCM6147AR und/oder Sus
FAS1008AD und/oder SMu
GATA11242XLR und/oder SMu
GATA21443AD und/oder SMu
GBA1611AD und/oder AR und/oder Sus
HAX1840AR
ITK1863AR
LIG42736AR und/oder SMu und/oder Sus
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH64083AD und/oder AR und/oder Sus
NBN2265AR und/oder Ass
NF18457AD und/oder SMu und/oder Sus
NHP2273AR
NOP10195AR
PALB23561AD und/oder Sus
PARN1920AD und/oder AR
PAX51074AD
PMS22589AR und/oder Sus
PRF11668AR
PTPN111782AD und/oder SMu
RAD511023AD und/oder Gen Fusion
RAD51C1131AR und/oder Sus
RPL11537AD
RPL15615AD
RPL26438AD
RPL27411AD
RPL35A333AD
RPL36318AD
RPL5894AD
RPS10498AD
RPS15438AD
RPS17408AD
RPS19438AD
RPS24393AD
RPS26348AD
RPS27255AD
RPS27A471AD
RPS28210AD
RPS29204AD
RPS7585AD
RTEL13732AD und/oder AR
RUNX11443AD und/oder Gen Fusion
SBDS753AR
SH2B31728AR und/oder SMu
SH2D1A378XLR
SLX45505AR und/oder Sus
STAT32313AD und/oder Mult
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TINF21356AD
TP531182AD und/oder SMu und/oder Sus
TSR2576XLR
UBE2T594AR
WAS1509XLR
WRAP531647AR
XRCC2843AR

Infos zur Erkrankung

Synonyme
  • Allelic: Aplastic anemia (PRF1)
  • Allelic: Erythrocytosis, somatic (SH2B3)
  • Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
  • Allelic: LEOPARD syndrome 1 (PTPN11)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Lymphoma, non-Hodgkin (PRF1)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Mirror movements 2 (RAD51)
  • Allelic: Myelofibrosis, somatic (SH2B3)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Neurofibromatosis, type 1 (NF1)
  • Allelic: Neurofibromatosis-Noonan syndrome (NF1)
  • Allelic: Noonan syndrome 1 (PTPN11)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PRN)
  • Allelic: Revesz syndrome (TINF2)
  • Allelic: Watson syndrome (NF1)
  • Allelic: Wiskott-Aldrich syndrome (WAS)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Aplastic anemia (NBN)
  • Ataxia-telangiectasia (ATM)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS)
  • Bloom syndrome (BLM)
  • Bone marrow failure syndrome 5 (TP53)
  • Cerebroretinal microangiopathy with calcifications and cysts (CTC1)
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
  • Diamond-Blackfan anemia 1 (RPS19)
  • Diamond-Blackfan anemia 10 (RPS26)
  • Diamond-Blackfan anemia 11 (RPL26)
  • Diamond-Blackfan anemia 12 (RPL15)
  • Diamond-Blackfan anemia 13 (RPS29)
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosi (TSR2)
  • Diamond-Blackfan anemia 16 (RPL27)
  • Diamond-Blackfan anemia 3 (RPS24)
  • Diamond-Blackfan anemia 4 (RPS17)
  • Diamond-Blackfan anemia 5 (RPL35A)
  • Diamond-Blackfan anemia 6 (RPL5)
  • Diamond-Blackfan anemia 7 (RPL11)
  • Diamond-Blackfan anemia 8 (RPS57)
  • Diamond-Blackfan anemia 9 (RPS10)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AR (NHP2)
  • Dyskeratosis congenita, AR 1 (NOP10)
  • Dyskeratosis congenita, AR 3 (WRAP53)
  • Dyskeratosis congenita, AR 4 (TERT)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, XL (DKC1)
  • Emberger syndrome (GATA2)
  • Fanconi anemia, complementation group A (FANCA)
  • Fanconi anemia, complementation group B (FANCB)
  • Fanconi anemia, complementation group C (FANCC)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group E (FANCE)
  • Fanconi anemia, complementation group G (FANCG)
  • Fanconi anemia, complementation group I (FANCI)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group L (FANCL)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group O (RAD51C)
  • Fanconi anemia, complementation group P (SLX4)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fanconi anemia, complementation group R (RAD51)
  • Fanconi anemia, complementation group S (BRCA1)
  • Fanconi anemia, complementation group T (UBE2T)
  • Fanconi anemia, complementation group U (XRCC2)
  • Gaucher disease, perinatal lethal + type I, II, III, IIIC (GBA)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hyper-IgE recurrent infection syndrome, AR (DOCK8)
  • LIG4 syndrome (LIG4)
  • Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
  • Leukemia, acute myeloid (CEBPA)
  • Leukemia, juvenile myelomonocytic (NF1)
  • Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Lymphoproliferative syndrome 1 (ITK)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • Mismatch repair cancer syndrome 1 (MLH1)
  • Mismatch repair cancer syndrome 2 (MSH2)
  • Mismatch repair cancer syndrome 3 (MSH6)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Neutropenia, severe congenital, XL (WAS)
  • Nijmegen breakage syndrome (NBN)
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
  • Platelet disorder, familial, with associated myeloid malignancy (RUNX)
  • Shwachman-Diamond syndrome (SBDS)
  • Thrombocythemia, somatic (SH2B3)
  • Thrombocytopenia 2 (ANKD26)
  • Thrombocytopenia 5 (ETV6)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL (WAS)
  • Thrombocytopenia, XL, intermittent (WAS)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • {Dyskeratosis congenita, autosomal dominant 2 (TERT)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Gen Fusion
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder SMu
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
  • Gen Fusion
  • XLR
  • XLR und/oder SMu
  • XLR und/oder Sus
OMIM-Ps
  • Keine OMIM-Ps verknüpft
ICD10 Code
D75.8

Bioinformatik und klinische Interpretation

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