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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

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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
Test 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