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ErkrankungRoberts-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Roberts-Syndrom, DIfferentialdiagnose, mit zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP9251
Anzahl Gene
22 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,9 kb (Core-/Basis-Gene)
64,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

RP9251_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ESCO21806AR
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
BUB1B3153AD und/oder AR und/oder Sus
CEP571476AR
FANCA4368AR und/oder Sus
FANCB2580XLR und/oder Sus
FANCC1677AR und/oder Sus
FANCE1611AR und/oder Sus
FANCF1125AR und/oder Sus
FANCG1869AR und/oder Sus
FANCI3987AR und/oder Sus
HDAC81134XLD
NIPBL8415AD und/oder Impr
RAD211896AD und/oder AR und/oder SMu und/oder Impr
RBM8A525AR
RECQL43628AR
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
TBX51557AD
TRIP13870AR
WNT31068AR und/oder Sus

Infos zur Erkrankung

Synonyme
  • Alias: ESCO2 Spectrum Disorder
  • Alias: Roberts-SC-Phokomelie-Syndrom
  • Alias: SC phocomelia syndrome
  • Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: Colorectal cancer, somatic (BUB1B)
  • Allelic: Oocyte maturation defect 9 (TRIP13)
  • Allelic: Wilms tumor (BRCA2)
  • Baller-Gerold syndrome (RECQL4)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Fanconi anemia, complementation group A (FANCA)
  • Fanconi anemia, complementation group B (FANCB)
  • Fanconi anemia, complementation group C (FANCC)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group E (FANCE)
  • Fanconi anemia, complementation group F (FANCF)
  • Fanconi anemia, complementation group G (FANCG)
  • Fanconi anemia, complementation group I (FANCI)
  • Fanconi anemia, complementation group J (BRIP1)
  • Holt-Oram syndrome (TBX5)
  • Juberg-Hayward syndrome (ESCOO2)
  • Mosaic variegated aneuploidy syndrome 1 (BUB1B)
  • Mosaic variegated aneuploidy syndrome 2 (CEP57)
  • Mosaic variegated aneuploidy syndrome 3 (TRIP13)
  • Mungan syndrome (RAD21)
  • Premature chromatid separation trait (BUB1B)
  • RAPADILINO syndrome (RECQL4)
  • Roberts-SC phocomelia syndrome (ESCO2)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Tetra-amelia syndrome 1 (WNT3)
  • Thrombocytopenia-absent radius syndrome (RBM8A)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Impr
  • AD und/oder SMu und/oder Impr
  • AD und/oder Sus
  • AR
  • AR und/oder Sus
  • XLD
  • XLD und/oder Impr
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q73.8

Bioinformatik und klinische Interpretation

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