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ErkrankungFAMMM-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für FAMMM Syndrom mit 8 bzw. 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
FP0010
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,0 kb (Core-/Basis-Gene)
27,7 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
BAP12190AD und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
CDK4912AD und/oder SMu
CDKN2A471AD und/oder SMu und/oder Sus
MC1R954AR
MITF1260AD und/oder AR und/oder Sus
POT11905AD und/oder SMu und/oder Sus
ACD1647AD und/oder AR
PTEN1212AD und/oder SMu und/oder Sus
TERF2IP1203n.k.
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TP531182AD und/oder SMu und/oder Sus
XRCC31041AD

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_FP0010

 

Synonyme
  • Alias: BAP1 cancer syndrome (BAP1)
  • Alias: BAP1 tumor predisposition syndrome (BAP1)
  • Alias: FAMM-PC syndrome
  • Alias: Familial atypical mole-malignant melanoma syndrome (FAMMM)
  • Alias: Familial atypical multiple mole melanoma syndrome
  • Alias: Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
  • Alias: Familial dysplastic naevus syndrome
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Breast cancer, susceptibility to (XRCC3)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: COMMAD syndrome (MITF)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Fanconi anemia, complementation group D1 (BRCA2)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Glioma susceptibility 9 (POT1)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Meningioma (PTEN)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Allelic: Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
  • Allelic: Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
  • Allelic: Tietz albinism-deafness syndrome (MITF)
  • Allelic: Waardenburg syndrome, type 2A (MITF)
  • Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
  • Allelic: Wilms tumor (BRCA2)
  • Atypical melanocytic proliferations + other internal neoplasms, COMMON syndrome (BAP1)
  • Basal cell carcinoma 7 (TP53)
  • Choroid plexus papilloma (TP53)
  • Cutaneous/ocular melanoma (BAP1)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 4 (TERT)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Li-Fraumeni syndrome (TP53)
  • Melanoma + neural system tumor syndrome (CDKN2A)
  • Melanoma, cutaneous malignant, 2 (CDKN2A)
  • Melanoma, cutaneous malignant, 3 (CDK4)
  • Melanoma, cutaneous malignant, 5 (MC1R)
  • Melanoma, cutaneous malignant, 6 (XRCC3)
  • Melanoma, cutaneous malignant, 9 (TERT)
  • Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
  • Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
  • Melanoma, familial (TERF2IP)
  • Melanoma-pancreatic cancer syndrome (CDKN2A)
  • UV-induced skin damage (MC1R)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C43.-

Bioinformatik und klinische Interpretation

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