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Klinische FragestellungMyelodysplastische Syndrome, hereditär; Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Myelodysplastisches Syndrom mit 7 Leitlinien-kuratierten sowie insgesamt 71 kuratierten Genen

ID
MP0960
Anzahl Gene
69 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
15,8 kb (Core-/Core-canditate-Gene)
128,0 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
ANKRD265133NM_014915.3AD
CEBPA1077NM_004364.5AD
DDX411935NM_016222.4AD
ETV61359NM_001987.5AD, Gen Fusion
GATA21443NM_032638.5AD
RUNX11443NM_001754.5AD, Gen Fusion
TERT3399NM_198253.3AD, AR
ACD1647NM_001082486.2AD, AR
ATRX7479NM_000489.6XLR
BLM4254NM_000057.4AR
CBL2721NM_005188.4n.k.
CTC13654NM_025099.6AR
DKC11545NM_001363.5XL
ELANE804NM_001972.4AD
ERCC42751NM_005236.3AR
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XL
FANCC1677NM_000136.3AR
FANCE1611NM_021922.3AR
FANCF1125NM_022725.4AR
FANCG1869NM_004629.2AR
FANCI3987NM_001113378.2AR
FANCL1128NM_018062.4AR
FANCM6147NM_020937.4AR
FLT32982NM_004119.3AD
GATA11242NM_002049.4XL
HAX1840NM_006118.4AR
MAD2L2683NM_001127325.2AR
MLH12271NM_000249.4AR
MSH22805NM_000251.3AR
MSH64083NM_000179.3AR
NAF11631NM_001128931.2AD
NHP2273NM_001034833.2AR
NOP10195NM_018648.4AR
PALB23561NM_024675.4AR
PARN1920NM_002582.4AD, AR
PMS22589NM_000535.7AR
RAD51C1131NM_058216.3AR
RPL11537NM_000975.5AD
RPL15615NM_001253379.2AD
RPL23457NM_000978.4AD
RPL26438NM_000987.5AD
RPL27411NM_000988.5AD
RPL311143
  • Keine OMIM-Gs verknüpft
NM_000993.5AD
RPL35A333NM_000996.4AD
RPL36318NM_015414.4AD
RPL5894NM_000969.5AD
RPS10498NM_001014.5AD
RPS15438NM_001018.5AD
RPS17408NM_001021.6AD
RPS24393NM_033022.4AD
RPS26348NM_001029.5AD
RPS27255NM_001030.6AD
RPS27A471NM_001135592.2AD
RPS28210NM_001031.5AD
RPS29204NM_001030001.4AD
RPS7585NM_001011.4AD
RTEL13732NM_032957.5AD, AR
SAMD94770NM_001193307.2AD
SAMD9L4756NM_152703.5AD
SLX45505NM_032444.4AR
STN11221NM_024928.5AD
TINF21356NM_001099274.3AD
TP531182NM_000546.6AD
TSR2576NM_058163.3XL
UBE2T594NM_014176.4AR
WAS1509NM_000377.3XL
WRAP531647NM_001143990.2AR
XRCC2843NM_005431.2AR

Infos zur Erkrankung

Klinischer Kommentar

Klonale hämatologische Stammzellstörungen, ineffektive Hämatopoese; niedrige Blutkörperchen, Anämie, Fortschreiten zur akuten myeloischen Leukämie

 

Synonyme
  • Alias: Haematological malignancies cancer susceptibility
  • Allelic: Ataxia-pancytopenia syndrome (SAMD9L)
  • Allelic: Bohring-Opitz syndrome (ASXL1)
  • Allelic: Cerebroretinal microangiopathy with calcifications + cysts 2 (STN1)
  • Allelic: D-2-hydroxyglutaric aciduria 2 (IDH2)
  • Allelic: Emberger syndrome (GATA2)
  • Allelic: Glioma, susceptibility to, somatic (IDH1)
  • Allelic: Heyn-Sproul-Jackson syndrome (DNMT3A)
  • Allelic: Tatton-Brown-Rahman syndrome (DNMT3A)
  • Acute myeloid leukaemia [panelapp red] (ZRSR2)
  • Allelic: Familial cancer syndrome, GI cancers [colon], ovarian, uterine, CNS [panelapp] (MLH1)
  • Allelic: Familial cancer syndrome, GI cancers [colon], ovarian, uterine, CNS [panelapp] (MSH2)
  • Allelic: Familial cancer syndrome, GI cancers [colon], ovarian, uterine, CNS [panelapp] (MSH6)
  • Allelic: Familial cancer syndrome, GI cancers [colon], ovarian, uterine, CNS [panelapp] (PMS2)
  • Allelic: Head + neck + anogenital squamous cell cancers, liver + esophageal CA [panelapp] (PALB2)
  • Allelic: Head + neck + anogenital squamous cell cancers, liver + esophageal CA [panelapp] (RAD51C)
  • Allelic: Pulmonary fibrosis +/- bone marrow failure, telomere-related, 4 (PARN)
  • Bone marrow failure syndrome 5 (TP53)
  • Chronic Myeloid Leukemia [panelapp red] (ZRSR2)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Fanconi anemia [panelapp] (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2)
  • Fanconi anemia, complementation group V (MAD2L2)
  • Immunodeficiency 21 (GATA2)
  • Leukaemia, acute myeloid (U2AF1)
  • Leukemia, acute myeloid (CEBPA)
  • Leukemia, acute myeloid (RUNX1)
  • Leukemia, acute myeloid, somatic (CEBPA)
  • Leukemia, acute myeloid, somatic (DNMT3A)
  • Leukemia, acute myeloid, somatic (ETV6)
  • Leukemia, acute myeloid, somatid (NPM1)
  • Leukemia, acute myeloid, susceptibility to (GATA2)
  • Lymphoma, ALL, MDS, AML; Constitutional mismatch repair deficiency [panelapp] (MLH1)
  • Lymphoma, ALL, MDS, AML; Constitutional mismatch repair deficiency [panelapp] (MSH2)
  • Lymphoma, ALL, MDS, AML; Constitutional mismatch repair deficiency [panelapp] (MSH6)
  • Lymphoma, ALL, MDS, AML; Constitutional mismatch repair deficiency [panelapp] (PMS2)
  • MDS [panelapp] (RPL11, RPL15, RPL23, RPL26, RPL27, RPL31, RPL35A, RPL36, RPL5)
  • MDS [panelapp] (RPS10, RPS15, RPS17, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7)
  • MDS, AML; BM failure syndrome, AR; Diamond Black. A.; Osteosarc., soft tiss. sar. [panelapp] (GATA1)
  • MDS, AML; BM failure syndrome, AR; Diamond Black. A.; Osteosarc., soft tiss. sar. [panelapp] (RPL23)
  • MDS, AML; BM failure syndrome, AR; Dyskeratosis cong.; Oral/GI squamous cell CA [panelapp] (NOP10)
  • MDS, AML; BM failure syndrome, AR; Dyskeratosis cong.; Oral/GI squamous cell carc. [panelapp] (NAF1)
  • MDS, AML; BM failure syndrome, AR; Dyskeratosis cong.; Oral/GI squamous cell carc. [panelapp] (NHP2)
  • MDS, AML; BM failure syndrome, AR; Dyskeratosis cong.; Oral/GI squamous cell carc. [panelapp] (STN1)
  • MDS, AML; BM failure syndrome, AR; oral/GI/vulv. squamous cell carc. [panelapp] (PALB2)
  • MDS, AML; BM failure, AR; FA-AR; H+N + squamous cell carcinoma: oral, GI, vulvar [panelapp] (RAD51C)
  • MDS, AML; BM failure, AR; Squamous cell carcinoma: oral, GI, vulvar [panelapp] (MAD2L2)
  • MDS, AML; class miscellaneous [panelapp] (HAX1)
  • Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
  • Myelodysplastic syndrome (SRSF2)
  • Myelodysplastic syndrome (U2AF1)
  • Myelodysplastic syndrome, paediatric [panelapp] (FLT3)
  • Myelodysplastic syndrome, somatic (ASXL1)
  • Myelodysplastic syndrome, somatic (SF3B1)
  • Myelodysplastic syndrome, somatic (TET2)
  • Myelodysplastic syndrome, susceptibility to (GATA2)
  • Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, susceptibility (DDX41)
  • Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Thrombocytopenia 5 (ETV6)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Gen Fusion
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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