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ErkrankungDarmversagen / Diarrhoe, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Darmversagen/ Diarrhoe mit 10 bzw. insgesamt 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
DP6658
Anzahl Gene
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,8 kb (Core-/Basis-Gene)
46,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
DGAT11467AR
EPCAM945AR und/oder SMu und/oder Sus
GUCY2C3222AD und/oder AR
MYO5B5547AR
SKIC23741AR
SKIC34695AR
SLC26A32295AR
SLC9A32505AR
SPINT2588AR
STXBP21773AR
ANO13232AR
CLMP1122AR
FLNA7920XL
FOXP31296XLR
NEUROG3645AR
PLVAP1335AR
STX31048AR
TTC7A2577AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_DP6658

 

Synonyme
  • Alias: Chronischer Durchfall beim Kleinkind
  • Alias: Congenital short bowel syndrome
  • Alias: Familial Diarrhea
  • Alias: Familiäre Diarrhoe
  • Alias: Kongenitales Kurzdarmsyndrom
  • Alias: [Angeborene] Durchfallerkrankung
  • Alias: [Congenital] diarrheal disorder
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Heterotopia, periventricular, 1 (FLNA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Otopalatodigital syndrome, type I (FLNA)
  • Allelic: Otopalatodigital syndrome, type II (FLNA)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Congenital short bowel syndrome (CLMP)
  • Congenital short bowel syndrome (FLNA)
  • Diarrhea 1, secretory chloride, congenital (SLC26A3)
  • Diarrhea 10, protein-losing enteropathy type (PLVAP)
  • Diarrhea 11, malabsorptive, congenital (PERCC1; Int. Control Region deletion)
  • Diarrhea 12, with microvillus atrophy (STX3)
  • Diarrhea 2, with microvillus atrophy, with/-out cholestasis (MYO5B)
  • Diarrhea 3, secretory sodium, congenital, syndromic (SPINT2)
  • Diarrhea 4, malabsorptive, congenital (NEUROG3)
  • Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Diarrhea 6 (GUCY2C)
  • Diarrhea 7, protein-losing enteropathy type (DGAT1)
  • Diarrhea 8, secretory sodium, congenital (SLC9A3)
  • Diarrhea 9 (WNT2B)
  • Enterokinase deficiency (TMPRSS15)
  • Gastrointestinal defects and immunodeficiency syndrome (TTC7A)
  • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Impaired intestinal peristalsis, haemorrhagic diarrhoea, dysmorphic features [panelapp] (ANO1)
  • MEDNIK [MR, Enteropathy, Deaf, periph. Neuropathy, Ichthyosis, Keratoderma] syndrome (WNT2B)
  • Meconium ileus (GUCY2C)
  • Microvillus inclusion disease (MYO5B)
  • Microvillus inclusion disease; diarrheal disorder [MONDO} (STX3)
  • Retinal dystrophy + microvillus inclusion disease (STX3)
  • Trichohepatoenteric syndrome 1 (TTC37)
  • Trichohepatoenteric syndrome 2 (SKIV2L)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AR
  • AR und/oder SMu und/oder Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
P78.3

Bioinformatik und klinische Interpretation

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