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ErkrankungMyeloproliferative Neoplasie - genetische Prädisposition; hereditär

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Myeloproliferative Neoplasie - genetische Prädisposition; hereditär, mit 88 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP0990
Anzahl Gene
82 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
178,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACD1647AD und/oder AR
ANAPC15835AR
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
DDX411935AD
DKC11545XLR
DNAJC212049AR
DOCK86300AR
ELANE804AD
ERCC42751AR
ETV61359Gen Fusion
FANCA4368AR und/oder Sus
FANCB2580XLR und/oder Sus
FANCC1677AR und/oder Sus
FANCE1611AR und/oder Sus
FANCF1125AR und/oder Sus
FANCG1869AR und/oder Sus
FANCI3987AR und/oder Sus
FANCL1128AR und/oder Sus
FAS1008AD und/oder SMu
GATA11242XLR und/oder SMu
GATA21443AD und/oder SMu
GBA1611AD und/oder AR und/oder Sus
HAX1840AR
IKZF11560AD und/oder SMu
ITK1863AR
LIG42736AR und/oder SMu und/oder Sus
MAD2L2683
  • Keine OMIM-Gs verknüpft
AR
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH64083AD und/oder AR und/oder Sus
NAF11631AD
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
RECQL43628AR
RMRP300AR
RPL11537AD
RPL15615AD
RPL23457AD
RPL26438AD
RPL27411AD
RPL311143
  • Keine OMIM-Gs verknüpft
AD
RPL36318AD
RPL5894AD
RPS10498AD
RPS15438AD
RPS26348AD
RPS27255AD
RPS27A471AD
RPS28210AD
RPS29204AD
RPS7585AD
RTEL13732AD und/oder AR
RUNX11443AD und/oder Gen Fusion
SAMD9L4756AD
SH2D1A378XLR
SLX45505AR und/oder Sus
STAT32313AD und/oder Mult
STN11221AR
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

Klinischer Kommentar

Myelodysplastische Syndrome als Gruppe von malignen Blut- + Knochenmarkserkrankungen, Stammzellen reifen nicht aus, vermehrt unreife Zellen, Blasten + dysplastische Zellen; normale reife Zellen im Blut nehmen ab, weniger Erythrozyten, weiße Blutkörperchen, Thrombozyten; Anämie, Neutropenie, Thrombozytopenie; periphere Zellzahlen können unauffällig sein, aber Blut- + Knochenmarkzellen sind dennoch anormal.

 

Synonyme
  • Allelic: Breast cancer, susceptibility to (RAD51)
  • Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, types 1, 2, 4, 5 (MSH2, MLH1, PMS2, MSH6)
  • Allelic: Immunodeficiency 21 (GATA2)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Mirror movements 2 (RAD51)
  • Allelic: Multiple myeloma, resistance to (LIG4)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Premature ovarian failure 15 (FANCM)
  • Allelic: Spermatogenic failure 28 (FANCM)
  • Allelic: Uveal melanoma, susceptibility to, 1 (MBD4)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Anauxetic dysplasia 1 (RMRP)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Aplastic anemia (NBN)
  • Aplastic anemia (PRF1)
  • Aplastic anemia, susceptibility to (SBDS)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Ataxia-telangiectasia (ATM)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS)
  • BM failure syndrome type AR [panelapp] (FANCM, NAF1)
  • BM failure syndrome, type AR [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
  • Baller-Gerold syndrome (RECQL4)
  • Bloom syndrome (BLM)
  • Bone marrow failure syndrome 2 (ERCC6L2)
  • Bone marrow failure syndrome 5 (TP53)
  • Cartilage-hair hypoplasia (RMRP)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Cerebroretinal microangiopathy with calcifications + cysts 2 (STN1)
  • 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 dysostosis (TSR2)
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
  • Diamond-Blackfan anemia 16 (RPL27)
  • Diamond-Blackfan anemia 17 (RPS27)
  • 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 (RPS7)
  • Diamond-Blackfan anemia 9 (RPS10)
  • Diamond-Blackfan anemia [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
  • Dyskeratosis congenita [panelapp] (NAF1)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 1 (NOP10)
  • Dyskeratosis congenita, AR 2 (NHP2)
  • Dyskeratosis congenita, AR 3 (WRAP53)
  • Dyskeratosis congenita, AR 4 (TERT)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Dyskeratosis congenita, XL (DKC1)
  • Emberger syndrome; primary lymphedema with myelodysplasia (GATA2)
  • Fanconi anemia, complementation group A-M (FANCA-FANCM)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group J (BRIP1)
  • 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)
  • Fanconi anemia, complementation group V (MAD2L2)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Head/neck + anogenital squamous cell, liver, esophagus CA; squamous c. CA: oral, GI, vulva (FANCB-M)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
  • Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
  • Hyper-IgE recurrent infection syndrome (STAT3)
  • Hyper-IgE recurrent infection syndrome, AR (DOCK8)
  • Juvenile myelomonocytic leukemia (CBL)
  • LEOPARD syndrome 1 (PTPN11)
  • LIG4 syndrome (LIG4)
  • Leukemia, acute lymphoblastic (NBN)
  • Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
  • Leukemia, acute myeloid (CEBPA)
  • Leukemia, acute myeloid (RUNX1)
  • Leukemia, acute myeloid (TERT)
  • Leukemia, acute myeloid, susceptibility to (GATA2)
  • Leukemia, juvenile myelomonocytic (NF1)
  • Li-Fraumeni syndrome (TP53)
  • Lymphoma, non-Hodgkin (PRF1)
  • Lymphoproliferative syndrome 1 (ITK)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • MDS, AML [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
  • Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
  • Monosomy 7 myelodysplasia and leukemia syndrome 1 (SMAD9L)
  • Muir-Torre syndrome (MLH1, MSH2)
  • Myelodysplastic syndrome, susceptibility to (GATA2)
  • Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, suscept. to (DDX41)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • 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 1 (PTPN11)
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
  • Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • RAPADILINO syndrome (RECQL4)
  • Revesz syndrome (TINF2)
  • Rothmund-Thomson syndrome, type 1 (ANAPC1)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Shwachman-Diamond syndrome (SBDS)
  • Thrombocytopenia 2 (ANKRD26)
  • Thrombocytopenia 5 (ETV6)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL (WAS)
  • Thrombocytopenia, XL, intermittent (WAS)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Tumor predisposition syndrome 2 (MBD4)
  • Watson syndrome (NF1)
  • Wiskott-Aldrich syndrome (WAS)
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 und/oder Sus
  • AR und/oder Sus
  • Gen Fusion
  • XLR
  • XLR und/oder SMu
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C94.6-

Bioinformatik und klinische Interpretation

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