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Klinische FragestellungMonosomie 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-/Core-canditate-Gene)
152,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
BLM4254NM_000057.4AR
BRCA210257NM_000059.4AR
BRIP13750NM_032043.3AR
CBL2721NM_005188.4AD
CEBPA1077NM_004364.5AD
DDX411935NM_016222.4AD
DNAJC212049NM_001012339.3AR
EFL13382NM_001040610.3AR
ELANE804NM_001972.4AD
ERCC6L22106NM_001010895.4AR
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XL, Sus
FANCC1677NM_000136.3AR
FANCE1611NM_021922.3AR, Sus
FANCF1125NM_022725.4AR, Sus
FANCG1869NM_004629.2AR, Sus
FANCI3987NM_001113378.2AR, Sus
G6PC31041NM_138387.4AR
GATA11242NM_002049.4XLR
GATA21443NM_032638.5AD, Sus
GFI11269NM_005263.5AD
HAX1840NM_006118.4AR
JAGN1552NM_032492.4AR
KRAS567NM_004985.5AD
LIG42736NM_002312.3AR
MLH12271NM_000249.4AD, AR, Sus
MSH22805NM_000251.3n.k.
MSH64083NM_000179.3n.k.
NF18457NM_001042492.3AD
NRAS570NM_002524.5AD, Sus
PMS22589NM_000535.7AR, Sus
PTPN111782NM_002834.5AD
RUNX11443NM_001754.5AD, Gen Fusion
SAMD94770NM_001193307.2AD
SAMD9L4756NM_152703.5AD
SBDS753NM_016038.4AR
SRP541534NM_001146282.2AD
TCIRG12493NM_006019.4AR
TP531182NM_000546.6AD
VPS451617NM_007259.5AR
WRN4299NM_000553.6AR
XPC2823NM_004628.5AR
ACD1647NM_001082486.2AD, AR
ANKRD265133NM_014915.3AD
ATM9171NM_000051.4AR
CTC13654NM_025099.6AR
DKC11545NM_001363.5XLR
ETV61359NM_001987.5Gen Fusion
MPL1908NM_005373.3AD, AR, SMu
NBN2265NM_002485.5AR, Sus
NHP2273NM_001034833.2AR
NOP10195NM_018648.4AR
PARN1920NM_002582.4AR, AD
RPL11537NM_000975.5AD
RPL35A333NM_000996.4AD
RPL5894NM_000969.5AD
RPS10498NM_001014.5AD
RPS17408NM_001021.6AD
RPS19438NM_001022.4AD
RPS24393NM_033022.4AD
RPS26348NM_001029.5AD
RTEL13732NM_032957.5AD, AR
SRP721833NM_001267722.2AD
TERT3399NM_198253.3Sus
TINF21356NM_001099274.3AD
WRAP531647NM_001143990.2AR

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
  • AR
  • Gen Fusion
  • SMu
  • Sus
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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