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Klinische FragestellungLeukämie, chronisch lymphatische B-Zell, hereditär; Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 18 Genen zur umfassenden Untersuchung der Erblichkeit von chronisch lymphatischer B-Zell-Leukämie

ID
LP8934
Anzahl Gene
16 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
46,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ATM9171NM_000051.4AR
BLM4254NM_000057.4AR
DOCK86300NM_203447.4AR
FAS1008NM_000043.6AD
GBA11611NM_001005741.3AR
LIG42736NM_002312.3AR
MLH12271NM_000249.4AR
MSH22805NM_000251.3AR
MSH64083NM_000179.3AR
NBN2265NM_002485.5AR
PMS22589NM_000535.7AR
PRF11668NM_001083116.3AR
RMRP300NR_003051.3AR
SH2D1A378NM_001114937.3XLR
UNC13D3273NM_199242.3AR, AD, Sus
WAS1509NM_000377.3XLR

Infos zur Erkrankung

Klinischer Kommentar

Das B-Zell-Non-Hodgkin-Lymphom, die häufigste Form der Leukämie in westlichen Ländern, betrifft ältere Erwachsene mit unterschiedlicher klinischer Präsentation von asymptomatisch bis zu Lymphadenopathie, Splenomegalie, häufigen Infektionen + Autoimmun-Komplikationen (hämolytische Anämie, Immunthrombozytopenie.

 

Synonyme
  • Alias: B-cell chronic lymphoid leukemia, B-CLL
  • Alias: Haematological malignancies cancer susceptibility
  • Alias: Small lymphocytic lymphoma
  • Allelic: Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Allelic: BM failure syndrome, type AR [panelapp] (WAS)
  • Allelic: Brain tumors, rhabdomyosarcoma; rare reports [panelapp] (NBN)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: CNS + gastrointest. cancers; ovarian; uterine; other [panelapp] (MLH1, MSH2, MSH6, PMS2)
  • Allelic: Cartilage-hair hypoplasia (RMRP)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Hodgkins lymphoma [panelapp] (ITK)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Allelic: Muir-Torre syndrome (MLH1, MSH2)
  • Allelic: Multiple myeloma, resistance to (LIG4)
  • Allelic: Neutropenia, severe congenital, XL (WAS)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Predisposition to acute lymphoblastic leukemia, ALL [panelapp] (STXBP2)
  • Allelic: Squamous carcinoma, bcc [panelapp] (RMRP)
  • Allelic: Thrombocytopenia, XL (WAS)
  • Allelic: Thrombocytopenia, XL, intermittent (WAS)
  • Allelic: XL neutropenia [panelapp] (WAS)
  • ALL [panelapp] (LIG4)
  • ALL, primarily T cell; Lymphoma [panelapp] (NBN)
  • Allelic: Skin squamous cell tumors [panelapp] (BLM)
  • Allelic: Squamous cell carcinoma (DOCK8)
  • Anauxetic dysplasia 1 (RMRP)
  • Aplastic anemia (NBN, PRF1)
  • Ataxia-telangiectasia (ATM)
  • Autoimmune lymphoproliferative syndrome (FAS)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS) 3
  • BM failure syndrome, type AR [panelapp] (NBN)
  • Bloom syndrome (BLM)
  • Constitutional mismatch repair deficiency s., Lynch syndrome [panelapp] (MLH1, MSH2, MSH6, PMS2)
  • Familial predisp to leukaemia, type AD [panelapp] (PRF1)
  • Familial predisp to leukaemia, type AD [panelapp] (STAT3)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hyper-IgE recurrent infection syndrome (STAT3)
  • Hyper-IgE recurrent infection syndrome, AR (DOCK8)
  • Increased risk of lymphoma [panelapp] (UNCD13)
  • Increased susceptibility to malignancy [panelapp] (UNCD13)
  • LIG4 syndrome (LIG4)
  • Leukemia [panelapp] (BLM, RMRP)
  • Leukemia, acute lymphoblastic (NBN)
  • Lymphoma [panelapp] (BLM, DOCK8, FAS, LIG4, PRF1, SH2D3, WAS)
  • Lymphoma, ALL, MDS, AML [panelapp] (BLM, MLH1, MSH2, MSH6, PMS2)
  • Lymphoma, non-Hodgkin (PRF1)
  • Lymphoproliferative disease [panelapp] (SH2D3)
  • Lymphoproliferative syndrome 1 (ITK)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • MDS, AML, Lymphoma [panelapp] (WAS)
  • Mismatch repair cancer syndrome 1 (MLH1)
  • Mismatch repair cancer syndrome 2 (MSH2)
  • Mismatch repair cancer syndrome 3 (MSH6)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Myeloma, lymphoma, hepatocellular carcinoma [panelapp] (GBA)
  • Nijmegen breakage syndrome (NBN)
  • Non-Hodgkin lymphoma [panelapp] (NBN)
  • Non-hodgkin lymphoma [panelapp] (RMRP)
  • Paediatric large granular lymphocytic leukaemia [panelapp] (STAT3)
  • Predisposition to childhood anaplastic large cell lymphoma [panelapp] (UNCD13)
  • Predisposition to leukemia [panelapp] (UNCD13)
  • Risk of lymphoma [panelapp] (STXBP2)
  • Various leukaemia [panelapp] (PRF1)
  • Wiskott-Aldrich syndrome (WAS)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Sus
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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