English
Klinische FragestellungMultiple gutartige Hauttumore, monogen bedingt; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Multiple gutartige Hauttumore, monogen bedingt, mit 6 "core candidate"-Genen bzw. zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP9967
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 14 |
Untersuchte Sequenzlänge
12,5 kb (Core-/Core-canditate-Gene)
48,0 kb (Erweitertes Panel: inkl. additional genes)
48,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CYLD | 2871 | NM_015247.3 | AD | |
| FLCN | 1740 | NM_144997.7 | AD | |
| LEMD3 | 2736 | NM_014319.5 | AD | |
| MLH1 | 2271 | NM_000249.4 | AD | |
| MSH2 | 2805 | NM_000251.3 | AD | |
| HR | 3570 | NM_005144.5 | AR | |
| MSH6 | 4083 | NM_000179.3 | AD | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| PLCD1 | 2334 | NM_001130964.2 | AD, AR | |
| PMS2 | 2589 | NM_000535.7 | AR | |
| PTCH1 | 4344 | NM_000264.5 | AD | |
| PTEN | 1212 | NM_000314.8 | AD | |
| TSC1 | 3495 | NM_000368.5 | AD | |
| TSC2 | 5424 | NM_000548.5 | AD |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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