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

IllnessMultiple benign monogenic skin tumors, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Multiple benign monogenic skin tumors, monogenic, comprising 6 core candidate genes and altogether 16 curated genes according to the clinical signs

ID
GP9967
Number of genes
14 Accredited laboratory test
Examined sequence length
12,5 kb (Core-/Core-canditate-Genes)
48,0 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
CYLD2871NM_015247.3AD
FLCN1740NM_144997.7AD
LEMD32736NM_014319.5AD
MLH12271NM_000249.4AD
MSH22805NM_000251.3AD
HR3570NM_005144.5AR
MSH64083NM_000179.3AD
NF18457NM_001042492.3AD
PLCD12334NM_001130964.2AD, AR
PMS22589NM_000535.7AR
PTCH14344NM_000264.5AD
PTEN1212NM_000314.8AD
TSC13495NM_000368.5AD
TSC25424NM_000548.5AD

Informations about the disease

Synonyms
  • Allelic: Alopecia universalis (HR)
  • Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Allelic: Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • 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 (FLCN)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Frontotemporal dementia and/or amytrophic lateral sclerosis 8 (CYLD)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Kosaki overgrowth syndrome (PDGFRB)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Macrocephaly
  • Allelic: Meningioma (PTEN)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Pneumothorax, primary spontaneous (FLCN)
  • Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
  • Atrichia with papular lesions (HR)
  • Basal cell nevus syndrome (PTCH1)
  • Birt-Hogg-Dube syndrome (FLCN)
  • Brooke-Spiegler syndrome (CYLD)
  • Buschke-Ollendorff syndrome (LEMD3)
  • Cowden syndrome 1 (PTEN)
  • Cylindromatosis, familial (CYLD)
  • Lhermitte-Duclos syndrome (PTEN)
  • Mismatch repair cancer syndrome 1 (MLH1)
  • Mismatch repair cancer syndrome 2 (MSH2)
  • Mismatch repair cancer syndrome 3 (MSH6)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Muir-Torre syndrome (MLH1, MSH2)
  • Myofibromatosis, infantile 2 (NOTCH3)
  • Myofibromatosis, infantile, 1 (PDGFRB)
  • Nail disorder, nonsyndromic congenital, 3, [leukonychia; pilar trichol,mmal cysts] (PLCD1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Osteopoikilosis with/-out melorheostosis (LEMD3)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Trichoepithelioma, multiple familial, 1 (CYLD)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Watson syndrome (NF1)
  • autism syndrome (PTEN)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined