©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRhabdomyosarcoma, familial; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Rhabdomyosarcoma, familial, comprising 1 guideline-curated core gene, furthermore 20 guideline-curated core candidate genes and altogether 28 curated genes according to the clinical signs

Number of genes
14 Accredited laboratory test
Examined sequence length
22,7 kb (Core-/Core-canditate-Genes)
39,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CDKN1C951NM_000076.2AD, Sus
MSH22805NM_000251.3AD, AR, Sus
PMS22589NM_000535.7AR, Sus, AD
RB12787NM_000321.3Sus, AD

Informations about the disease

Clinical Comment

Malignant soft tissue tumor develops from striated muscle cells; the most common form of tumor found in children + adolescents


  • 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: Cardiomyopathy, dilated, 1GG (SDHA)
  • 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: Desmoid disease, hereditary (APC)
  • 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: Holoprosencephaly 7 (PTCH1)
  • Allelic: Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)
  • Allelic: IMAGE syndrome (CDKN1C)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Mastocytosis, cutaneous (KIT)
  • Allelic: Meacham syndrome (WT1)
  • Allelic: Menke-Hennekam syndrome 1 (CREBBP)
  • Allelic: Mesothelioma, somatic (WT1)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
  • 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: Neural tube defects, susceptibility to (TBXT)
  • Allelic: Neurodegeneration, ataxia + late-onset optic atrophy (SDHA)
  • Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Osteosarcoma, somatic (RB1)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Piebaldism (KIT)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Premature chromatid separation trait (BUB1B)
  • Allelic: Sacral agenesis with vertebral anomalies (TBXT)
  • 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)
  • Adenomatous polyposis coli (APC)
  • Adrenocortical carcinoma, pediatric (TP53)
  • Aplastic anemia (NBN)
  • Basal cell nevus syndrome (PTCH1)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Bloom syndrome (BLM)
  • Brain tumor-polyposis syndrome 2 (APC)
  • Chordom [Leitlinie] (TBXT)
  • Costello syndrome (HRAS)
  • Frasier syndrome (WT1)
  • Gardner syndrome (APC)
  • Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Gastrointestinal stromal tumor (SDHB, SDHC)
  • Gastrointestinal stromal tumor, familial (KIT)
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic/familial (PDGFRA)
  • LEOPARD syndrome 1 (PTPN11)
  • Li-Fraumeni syndrome (TP53)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Mosaic variegated aneuploidy syndrome (BUB1B)
  • Neurofibromatosis, type 1 (NF1)
  • Nijmegen breakage syndrome (NBN)
  • Noonan syndrome 1 (PTPN11)
  • Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
  • Paragangliomas 1, +/- deafness (SDHD)
  • Paragangliomas 3 (SDHC)
  • Paragangliomas 4 (SDHB)
  • Paragangliomas 5 (SDHA)
  • Pheochromocytoma (SDHB, SDHD)
  • Retinoblastoma (RB1)
  • Retinoblastoma, trilateral (RB1)
  • Rhabdomyosarcoma 2, alveolar (PAX3, PAX7)
  • Rhabdomyosarcoma, alveolar (FOXO1)
  • Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • Sus
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined