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Klinische FragestellungNoonan-Syndrom mit multiplen Lentigines, Differentialdiagnose [obsolet: LEOPARD-S.]

Zusammenfassung

Kurzinformation

Ein panel mit 3 Leitlinien-kuratierten und insgesamt 15 kuratierten Genen zur umfassenden Untersuchung der Verdachtsdiagnose "LEOPARD"-Syndrom

ID
LP5220
Anzahl Gene
10 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,3 kb (Core-/Core-canditate-Gene)
22,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + Sanger

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
BRAF2301NM_004333.6AD
MAP2K11182NM_002755.4AD
PTPN111782NM_002834.5AD
RAF11947NM_002880.4AD
KRAS567NM_004985.5AD
MAP2K21203NM_030662.4AD
NF18457NM_001042492.3AD
NRAS570NM_002524.5AD
RIT1660NM_006912.6AD
SOS14002NM_005633.4AD

Infos zur Erkrankung

Klinischer Kommentar

Lentigines, hypertrophe Kardiomyopathie, Kleinwuchs, deformierter Brustkorb + dysmorphe Gesichtszüge

 

Synonyme
  • OBSOLETE designation: LEOPARD syndrome
  • Aarskog-Scott syndrome (FGD1)
  • Alias: Cardiomyopathic lentiginosis
  • Alias: Familial multiple lentigines syndrome
  • Alias: Lentiginosis, cardiomyopathic
  • Alias: Multiple lentigines syndrome
  • Alias: Noonan syndrome with multiple lentigines
  • Allelic: Adenocarcinoma of lung, somatic (BRAF)
  • Allelic: Cardiofaciocutaneous syndrome (BRAF)
  • Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
  • Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
  • Allelic: Colorectal cancer, somatic (BRAF)
  • Allelic: Colorectal cancer, somatic (NRAS)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Epidermal nevus, somatic (NRAS)
  • Allelic: Fibromatosis, gingival, 1 (SOS)
  • Allelic: Intellectual developmental disorder, XL syndromic 16 (FGD1)
  • Allelic: Juvenile myelomonocytic leukemia (CBL)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Allelic: Melanoma, malignant, somatic (BRAF)
  • Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Neurofibromatosis, type 1 (NF1)
  • Allelic: Neurofibromatosis-Noonan syndrome (NF1)
  • Allelic: Nonsmall cell lung cancer, somatic (BRAF)
  • Allelic: Noonan syndrome 1 (PTPN11)
  • Allelic: Noonan syndrome 5 (RAF1)
  • Allelic: Noonan syndrome 6 (NRAS)
  • Allelic: Noonan syndrome 7 (BRAF)
  • Allelic: Oculoectodermal syndrome, somatic (KRAS)
  • Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS, NRAS)
  • Allelic: Thyroid carcinoma, follicular, somatic (NRAS)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Costello syndrome (HRAS)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • Legius syndrome (SPRED1)
  • Melanocytic nevus syndrome, congenital, somatic (NRAS)
  • Neurocutaneous melanosis, somatic (NRAS)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 4 (SOS)
  • Noonan syndrome 8 (RIT1)
  • Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia (CBL)
  • Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
  • Watson syndrome (NF1)
Erbgänge, Vererbungsmuster etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.1

Bioinformatik und klinische Interpretation

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