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ErkrankungGenodermatosen mit maligner Entartung, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Genodermatosen mit maligner Entartung mit 8 bzw. 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP7586
Anzahl Gene
22 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,1 kb (Core-/Basis-Gene)
69,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH64083AD und/oder AR und/oder Sus
PTCH14344AD und/oder SMu
PTCH23612AD
PTEN1212AD und/oder SMu und/oder Sus
STK111302AD und/oder Sus
SUFU1455AD und/oder AR
APC8532AD und/oder Sus
COL7A18835AD und/oder AR
DDB21284AR
ERCC22283AR
ERCC32349AR
ERCC42751AR
ERCC53561AR
KRT141419AD und/oder AR und/oder Dig
KRT51773AD und/oder AR und/oder Dig
LAMA35175AR
LAMB33519AD und/oder AR und/oder Dig
LAMC23582AR
XPA822AR
XPC2823AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Störungen: Basalzellnaevus-Syndrom, Gardner-Syndrom, Peutz-Jeghers-Syndrom, Xeroderma pigmentosum; Dowling-Meara epidermolyis bullosa simplex, Herlitz junctional epidermolysis bullosa, Hallopeau-Siemens rezessiv dystrophische Epidermolysis bullosa

 

Synonyme
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Anauxetic dysplasia 1 (RMRP)
  • Allelic: Baller-Gerold syndrome (RECQL4)
  • Allelic: Bannayan-Riley-Ruvalcaba syndrome (PTEN)
  • Allelic: Bart-Pumphrey syndrome (GJB2)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: COMMAD syndrome (MITF)
  • 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 5 (MSH6)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Cylindromatosis, familial (CYLD)
  • Allelic: Deafness, AD 3A (GJB2)
  • Allelic: Deafness, AD 3B (GJB6)
  • Allelic: Deafness, AR 1A (GJB2)
  • Allelic: Deafness, AR 1B (GJB6)
  • Allelic: Deafness, Dig GJB2/GJB6 (GJB6)
  • Allelic: Dowling-Degos disease 1 (KRT5)
  • Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Dyskeratosis congenita, Ar 4 (TERT)
  • Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Epidermolysis bullosa dystrophica inversa; EBD, Bart type; EBD, localisata variant (COL7A1)
  • Allelic: Epidermolysis bullosa simplex, Dowling-Meara type (KRT14, KRT5)
  • Allelic: Epidermolysis bullosa simplex, Koebner type (KRT14, KRT5)
  • Allelic: Epidermolysis bullosa simplex, recessive 1 (KRT14, KRT5)
  • Allelic: Epidermolysis bullosa simplex-MCR (KRT5)
  • Allelic: Epidermolysis bullosa simplex-MP (KRT5)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Glioma susceptibility 9 (POT1)
  • Allelic: Holoprosencephaly-7 (PTCH1)
  • Allelic: Hystrix-like ichthyosis with deafness (GJB2)
  • Allelic: Joubert syndrome 32 (SUFU)
  • Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
  • Allelic: Odontoonychodermal dysplasia (WNT10A)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Allelic: RAPADILINO syndrome (RECQL4)
  • Allelic: Tietz albinism-deafness syndrome (MITF)
  • Allelic: Tooth agenesis, selective, 4 (WNT10A)
  • Allelic: Trichoepithelioma, multiple familial, 1 (CYLD)
  • Allelic: VATER association with macrocephaly and ventriculomegaly (PTEN)
  • Allelic: Vohwinkel syndrome (GJB2)
  • Allelic: Waardenburg syndrome, type 2A (MITF)
  • Allelic: Waardenburg syndrome/ocular albinism, Dig (MITF)
  • Allelic: Wilms tumor (BRCA2)
  • Basal cell carcinoma 7 (TP53)
  • Basal cell carcinoma [panelapp] (ACTRT1)
  • Basal cell carcinoma, somatic (PTCH1, PTCH2)
  • Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome (PTCH1, PTCH2, SUFU)
  • Bazex–Dupré–Christol syndrome [panelapp] (ACTRT1)
  • Bloom syndrome (BLM)
  • Brooke-Spiegler syndrome (CYLD)
  • Cartilage-hair hypoplasia (RMRP)
  • Cowden syndrome (PTEN)
  • Cowden syndrome 4 (KLLN)
  • Cowden syndrome 5 (PIK3CA)
  • Cowden syndrome 6 (AKT1)
  • Cowden syndrome 7 (SEC23B)
  • Dermatopathia pigmentosa reticularis (KRT14)
  • Desmoid disease, hereditary (APC)
  • Epidermodysplasia verruciformis (TMC6)
  • Epidermodysplasia verruciformis 2 (TMC8)
  • Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14, KRT5)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group S (BRCA1)
  • Gorlin syndrome
  • Hermansky-Pudlak syndrome 1 (HPS1)
  • Hermansky-Pudlak syndrome 10 (AP3D1)
  • Hermansky-Pudlak syndrome 11 (BLOC1S5)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Hermansky-Pudlak syndrome 3 (HPS3)
  • Hermansky-Pudlak syndrome 4 (HPS4)
  • Hermansky-Pudlak syndrome 5 (HPS5)
  • Hermansky-Pudlak syndrome 6 (HPS6)
  • Hermansky-Pudlak syndrome 7 (DTNBP1)
  • Hermansky-Pudlak syndrome 8 (BLOC1S3)
  • Hermansky-Pudlak syndrome 9 (PLDN)
  • Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Keratitis-ichthyosis-deafness syndrome [Lit.] (GJB6)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Malignant melanoma, somatic (PTEN)
  • Melanoma + neural system tumor syndrome (CDKN2A)
  • Melanoma, cutaneous malignant, 2 (CDKN2A)
  • Melanoma, cutaneous malignant, 3 (CDK4)
  • Melanoma, cutaneous malignant, 9 (TERT)
  • Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
  • Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
  • Melanoma-pancreatic cancer syndrome (CDKN2A)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6)
  • Muir-Torrs syndrome (MLH1, MSH2, MSH6)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Schopf-Schulz-Passarge syndrome (WNT10A)
  • Tumor predisposition syndrome (BAP1)
  • Xeroderma pigmentosum, group A (XPA)
  • Xeroderma pigmentosum, group C (XPC)
  • Xeroderma pigmentosum, group D (ERCC2, -3, -4, -5)
  • Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
  • Xeroderma pigmentosum, variant type (POLH)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Sus
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C44.9

Bioinformatik und klinische Interpretation

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