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GenetischePanel-Diagnostik

ErkrankungKnochenmarks-Dysfunktion, erblich

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für erbliche Knochenmarksdysfunktion mit 12 bzw. 65 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP4958
Anzahl Gene
65 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,4 kb (Core-/Basis-Gene)
135,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
DKC11545XLR
ELANE804AD
GFI11269AD
HAX1840AR
PALB23561AD und/oder Sus
RPL35A333AD
RPS17408AD
RPS19438AD
RPS24393AD
SBDS753AR
BACH12211Sus
BRCA15592AD und/oder AR und/oder SMu und/oder Sus
CBL2721AD und/oder SMu
CEBPA1077AD und/oder SMu
CSF3R2511AR und/oder SMu
CTC13654AR
CXCR41059AD und/oder SMu und/oder Sus
DNAJC212049
  • Keine OMIM-Gs verknüpft
AR
EFL13382
  • Keine OMIM-Gs verknüpft
AR
ERCC42751AR
ERCC6L22106AR
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
FLT32982AD und/oder SMu
G6PC31041AR
GATA11242XLR und/oder SMu
GATA21443AD und/oder SMu
IFNG501Mult und/oder SMu und/oder Sus
MPL1908AD und/oder AR und/oder SMu
NBN2265AR und/oder Ass
NHP2273AR
NOP10195AR
PARN1920AD und/oder AR
PRF11668AR
RAD51C1131AR und/oder Sus
RMRP300AR
RPL11537AD
RPL5894AD
RPS10498AD
RPS26348AD
RPS29204AD
RPS7585AD
RTEL13732AD und/oder AR
SAMD94770AD und/oder AR und/oder SMu
SAMD9L4756
  • Keine OMIM-Gs verknüpft
AD
SLX45505AR und/oder Sus
TAFAZZIN879XLR
TCN21284AR
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TINF21356AD
VPS451617AR
WAS1509XLR
WIPF11512AR
WRAP531647AR
XK1335XL

Infos zur Erkrankung

Klinischer Kommentar

Triphasisch, mit 2-5 Jahren (am häufigsten vererbt), zwischen 20-25 Jahren, nach 65 Jahren (erworbene Ursachen); vererbt 10%-15%, 30% pädiatrisch -> 65/1 000 000 Lebendgeburten/Jahr

 

Synonyme
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Alias: Bone marrow failure syndromes, inherited
  • Allelic: AIDS, rapid progression to (IFNG)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Cartilage-hair hypoplasia (RMRP)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Dyskeratosis congenita, AD 4 (RTEL1)
  • Allelic: Dyskeratosis congenita, AR 4 (TERT)
  • Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
  • Allelic: Emberger syndrome (GATA2)
  • Allelic: Hepatitis C virus, response to therapy of (IFNG)
  • Allelic: Immunodeficiency 21 (GATA2)
  • Allelic: Immunodeficiency 69, mycobacteriosis (IFNG)
  • Allelic: Juvenile myelomonocytic leukemia (CBL)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
  • Allelic: Nijmegen breakage syndrome (NBN)
  • Allelic: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: TSC2 angiomyolipomas, renal, modifier of (IFNG)
  • Allelic: Thrombocythemia 2 (MPL)
  • Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Allelic: Thrombocytopenia, XL (WAS)
  • Allelic: Thrombocytopenia, XL, intermittent (WAS)
  • Allelic: Thrombocytopenia, XL, with /-out dyserythropoietic anemia (GATA1)
  • Allelic: Thrombocytopenia, congenital amegakaryocytic (MPL)
  • Allelic: Tuberculosis, protection against (IFNG)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: Wilms tumor (BRCA2)
  • Allelic: Wiskott-Aldrich syndrome (WAS)
  • Allelic: XFE progeroid syndrome (ERCC4)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
  • Anauxetic dysplasia 1 (RMRP)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Aplastic anemia (IFNG; NBN, PRF1, SBDS)
  • Aplastic anemia, susceptibility to (SBDS)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Bone marrow failure syndrome 2 (ERCC6L2)
  • Bone marrow failure syndrome 3 (DNAJC21)
  • Diamond-Blackfan anemia 1 (RPS19)
  • Diamond-Blackfan anemia 10 (RPS26)
  • Diamond-Blackfan anemia 13 (RPS29)
  • 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 3 (RPS24)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AR 2 (NHP2)
  • Dyskeratosis congenita, AR 3 (WRAP53)
  • Dyskeratosis congenita, XL (DKC1)
  • Familial MDS; Myelodysplastic syndromes (CEBPA)
  • 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 (BRIP)
  • 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 S (BRCA1)
  • MIRAGE s. [myelodyspl., infection, growth restr., adr. hypoplasia, genit. abn., enteropathy] (SAMD9)
  • Monosomy 7 myelodysplasia and leukemia syndrome 1 (SAMD9L)
  • Myelodysplastic syndrome (MDS), Paediatric (CBL)
  • Myelodysplastic syndrome (MDS), Paediatric (FLT3)
  • Myelodysplastic syndrome, susceptibility to (GATA2)
  • Myelofibrosis with myeloid metaplasia, somatic (MPL)
  • Myelokathexis, isolated (CXCR4)
  • 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 5, AR (VPS45)
  • Neutropenia, severe congenital 7, AR (CSF3R)
  • Neutropenia, severe congenital, XL (WAS)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL)
  • Revesz syndrome (TINF2)
  • Shwachman-Diamond syndrome (SBDS)
  • Shwachman-Diamond syndrome 2 (EFL1)
  • Transcobalamin II deficiency (TCN2)
  • WHIM syndrome (CXCR4)
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 SMu
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder SMu
  • AR und/oder Sus
  • Mult und/oder SMu und/oder Sus
  • Sus
  • XL
  • 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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