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ErkrankungMonosomie 7-Prädisposition-Syndrome, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Monosomie 7-Prädisposition-Syndrome mit 43 bzw. zusammen genommen 67 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP9923
Anzahl Gene
66 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
107,5 kb (Core-/Basis-Gene)
152,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
BLM4254AR 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
DDX411935AD
DNAJC212049AR
EFL13382AR
ELANE804AD
ERCC6L22106AR
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
G6PC31041AR
GATA11242XLR und/oder SMu
GATA21443AD und/oder SMu
GFI11269AD
HAX1840AR
JAGN1552AR
KRAS567AD und/oder SMu und/oder Sus
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
NF18457AD und/oder SMu und/oder Sus
NRAS570AD und/oder SMu und/oder Sus
PMS22589AR und/oder Sus
PTPN111782AD und/oder SMu
RUNX11443AD und/oder Gen Fusion
SAMD94770AD und/oder AR und/oder SMu
SAMD9L4756AD
SBDS753AR
SRP541534AD
TCIRG12493AR
TP531182AD und/oder SMu und/oder Sus
VPS451617AR
WRN4299AR
XPC2823AR
ACD1647AD und/oder AR
ANKRD265133AD und/oder SMu
ATM9171AD und/oder AR und/oder SMu und/oder Sus
CTC13654AR
DKC11545XLR
ETV61359Gen Fusion
MPL1908AD und/oder AR und/oder SMu
NBN2265AR und/oder Ass
NHP2273AR
NOP10195AR
PARN1920AD und/oder AR
RPL11537AD
RPL35A333AD
RPL5894AD
RPS10498AD
RPS17408AD
RPS19438AD
RPS24393AD
RPS26348AD
RTEL13732AD und/oder AR
SRP721833AD und/oder Sus
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TINF21356AD
WRAP531647AR

Infos zur Erkrankung

Synonyme
  • Alias: Watson disease (NF1)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Dursun syndrome (G6PC3)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Noonan syndrome 3 (KRAS)
  • Allelic: Oculoectodermal syndrome, somatic (KRAS)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Aplastic anemia, susceptibility to (SBDS)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Ataxia-telangiectasia (ATM) Bloom syndrome (BLM)
  • Bone marrow failure syndrome 1 (SRP72)
  • Bone marrow failure syndrome 2 (ERCC6L2)
  • Bone marrow failure syndrome 3 (DNAJC21)
  • Bone marrow failure syndrome 5 (TP53)
  • Cardiofaciocutaneous syndrome 2 (KRAS)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
  • Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
  • Diamond-Blackfan anemia 1 (RPS19)
  • Diamond-Blackfan anemia 10 (RPS26)
  • 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 9 (RPS10)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • 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, XL (DKC1)
  • Emberger syndrome (GATA2)
  • Familial adenomatous polyposis 4 (MSH3)
  • 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 F (FANCF)
  • Fanconi anemia, complementation group G (FANCG)
  • Fanconi anemia, complementation group I (FANCI)
  • Fanconi anemia, complementation group J (BRIP1)
  • Immunodeficiency 21 (GATA2)
  • Juvenile myelomonocytic leukemia (CBL)
  • LEOPARD syndrome 1 (PTPN11)
  • LIG4 syndrome (LIG4)
  • Leukemia, acute myeloid (CEBPA)
  • Leukemia, acute myeloid (RUNX1)
  • Leukemia, acute myeloid (TERT)
  • Leukemia, acute myeloid, somatic (CEBPA)
  • Leukemia, acute myeloid, somatic (ETV6)
  • Leukemia, acute myeloid, somatic (KRAS)
  • Leukemia, acute myeloid, susceptibility to (GATA2)
  • Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • MIRAGE syndrome (SAMD9)
  • Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
  • Monosomy 7 myelodysplasia and leukemia syndrome 2 (SAMD9)
  • Multiple myeloma, resistance to (LIG4)
  • Myelodysplastic syndrome, susceptibility to (GATA2)
  • Myelofibrosis with myeloid metaplasia, somatic (MPL)
  • Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, susceptibility (DDX41)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 2, AD (GFI1)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Neutropenia, severe congenital 4, AR (G6PC3)
  • Neutropenia, severe congenital, 5, AR (VPS45)
  • Neutropenia, severe congenital, 6, AR (JAGN1)
  • Neutropenia, severe congenital, 8, AD (SRP54)
  • Nijmegen breakage syndrome (NBN)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 6 (NRAS)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Osteopetrosis, AR 1 (TCIRG)
  • 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)
  • RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
  • Revesz syndrome (TINF2)
  • Shwachman-Diamond syndrome (SBDS)
  • Shwachman-Diamond syndrome 2 (EFL1)
  • Thrombocythemia 2 (MPL)
  • Thrombocytopenia 2 (ANKRD26)
  • Thrombocytopenia 5 (ETV6)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Thrombocytopenia, congenital amegakaryocytic (MPL)
  • Werner syndrome (WRN)
  • Xeroderma pigmentosum, group C (XPC)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • 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 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
Q99.-

Bioinformatik und klinische Interpretation

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