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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMultiple myeloma, susceptibility

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Summary

Short information

Comprehensive panel for susceptibility/mutation detection in Multiple myeloma comprising 4 curated genes according to the clinical signs

ID
MP0101
Number of genes
4 Accredited laboratory test
Examined sequence length
3,7 kb (Core-/Core-canditate-Genes)
4,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CCND1888NM_053056.3AD, Gen Fusion
LIG42736NM_002312.3AR
KRAS567NM_004985.5AD
NRAS570NM_002524.5AD, Sus

Informations about the disease

Clinical Comment

Malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow + skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia + presence of abnormal Igs.

 

Synonyms
  • Alias: Medullary plasmacytoma
  • Alias: Myelomatosis, Morbus Kahler
  • Alias: Plasma cell myeloma
  • Allelic: Adenocarcinoma of lung, somatic (BRAF)
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Bladder cancer, somatic (KRAS)
  • Allelic: Breast cancer, somatic (KRAS)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Cardiofaciocutaneous syndrome (BRAF)
  • Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Colorectal cancer, somatic (BRAF, NRAS)
  • Allelic: Colorectal cancer, susceptibility to (CCND1)
  • Allelic: Epidermal nevus, somatic (NRAS)
  • Allelic: Gastric cancer, somatic (KRAS)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: LEOPARD syndrome 3 (BRAF)
  • Allelic: LIG4 syndrome [Nijmegen breakage like syndrome] (LIG4)
  • Allelic: Leukemia, acute myeloid, somatic (KRAS)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Lung cancer, somatic (KRAS)
  • Allelic: Melanocytic nevus syndrome, congenital, somatic (NRAS)
  • Allelic: Melanoma, malignant, somatic (BRAF)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Neurocutaneous melanosis, somatic (NRAS)
  • Allelic: Nonsmall cell lung cancer, somatic (BRAF)
  • Allelic: Noonan syndrome 3 (KRAS)
  • Allelic: Noonan syndrome 6 (NRAS)
  • Allelic: Noonan syndrome 7 (BRAF)
  • Allelic: Oculoectodermal syndrome, somatic (KRAS)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Pancreatic carcinoma, somatic (KRAS)
  • Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS, NRAS)
  • Allelic: Thyroid carcinoma, follicular, somatic (NRAS)
  • Allelic: von Hippel-Lindau syndrome, modifier of (CCND1)
  • Multiple myeloma, resistance to (LIG4)
  • Multiple myeloma, susceptibility to (CCND1)
  • [Cancer driver genes partially included]
  • [Sequelae: Amyloidosis, systemic]
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined