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ErkrankungRhabdomyosarkom, familiär; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Rhabdomyosarkom, familiär, mit 10 bzw. zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP1526
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,7 kb (Core-/Basis-Gene)
39,9 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
BUB1B3153AD und/oder AR und/oder Sus
CDKN1C951AD und/oder Sus
HRAS570AD 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
NBN2265AR und/oder Ass
PMS22589AR und/oder Sus
RB12787AD und/oder Sus
TP531182AD und/oder SMu und/oder Sus
DICER15769AD und/oder Sus
NF18457AD und/oder SMu und/oder Sus
PAX31440AD und/oder AR und/oder SMu und/oder Gen Fusion
PAX71563SMu und/oder Gen Fusion

Infos zur Erkrankung

Klinischer Kommentar

Bösartiger Weichteiltumor entwickelt sich aus quergestreiften Muskelzellen; die häufigste Form des Tumors bei Kindern + Jugendlichen

 

Synonyme
  • Adrenocortical carcinoma, pediatric (TP53)
  • Alias: Familial rhabdomyosarcoma
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Bladder cancer, somatic (HRAS, RB1)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • 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: Colorectal cancer, somatic (BUB1B)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Costello syndrome (HRAS)
  • Allelic: Craniofacial-deafness-hand syndrome (PAX3)
  • Allelic: Denys-Drash syndrome (WT1)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: GLOW syndrome, somatic mosaic (DICER1)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: IMAGE syndrome (CDKN1C)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Meacham syndrome (WT1)
  • Allelic: Mesothelioma, somatic (WT1)
  • Allelic: Muir-Torre syndrome (MLH1, MSH2)
  • Allelic: Myopathy, congenital, progressive, with scoliosis (PAX7)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Nephrotic syndrome, type 4 (WT1)
  • Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Osteosarcoma, somatic (RB1)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Premature chromatid separation trait (BUB1B)
  • Allelic: Retinoblastoma, trilateral (RB1)
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS)
  • Allelic: Small cell cancer of the lung, somatic (RB1)
  • Allelic: Spitz nevus or nevus spilus, somatic (HRAS)
  • Allelic: Thyroid carcinoma, follicular, somatic (HRAS)
  • Allelic: Waardenburg syndrome, type 1 + 3 (PAX3)
  • Allelic: Watson syndrome (NF1)
  • Allelic: Wilms tumor, type 1 (WT1)
  • Aplastic anemia (NBN)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Frasier syndrome (WT1)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Mosaic variegated aneuploidy syndrome (BUB1B)
  • Neurofibromatosis, type 1 (NF1)
  • Nijmegen breakage syndrome (NBN)
  • Retinoblastoma (RB1)
  • Rhabdomyosarcoma 2, alveolar (PAX3, PAX7)
  • Rhabdomyosarcoma, alveolar (FOXO1)
  • Rhabdomyosarcoma, embryonal, 2 (DICER1)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR und/oder SMu und/oder Gen Fusion
  • AD und/oder AR und/oder Sus
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR und/oder Ass
  • AR und/oder Sus
  • SMu und/oder Gen Fusion
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C76.-

Bioinformatik und klinische Interpretation

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