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Klinische FragestellungGastroenterologische epitheliale Barriere-Störungen

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gastroenterologische epitheliale Barriere-Störungen mit 23 bzw. 56 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP3039
Anzahl Gene
53 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
29,0 kb (Core-/Core-canditate-Gene)
125,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
CD40LG786NM_000074.3XLR
CTLA4525NM_001037631.3AD
CYBA588NM_000101.4AR
CYBB1713NM_000397.4XLR
DCLRE1C2079NM_001033855.3AR
EPCAM945NM_002354.3AR
FOXP31296NM_014009.4XLR
ICOS600NM_012092.4AR
IL10537NM_000572.3AR
IL10RA1737NM_001558.4AR
IL10RB978NM_000628.5AR
IL2RA819NM_000417.3AR
IL2RG1110NM_000206.3XLR
MVK1191NM_000431.4AR
NCF11173NM_000265.6AR
RAG21584NM_000536.4AR
SH2D1A378NM_001114937.3XL
SLC37A41291NM_001164277.2AR
STAT32313NM_139276.3AD
STXBP21773NM_006949.4AR
TTC7A2577NM_020458.4AR
WAS1509NM_000377.3XL
XIAP1494NM_001167.4XL
ADA1092NM_000022.4AR
ADAM172475NM_003183.6AR
COL7A18835NM_000094.4AR
DOCK86300NM_203447.4AR
FERMT12034NM_017671.5AR
GUCY2C3222NM_004963.4AD, AR
HPS12103NM_000195.5AR
HPS42127NM_022081.6AR
HPS62328NM_024747.6AR
ITGB22310NM_000211.5AR
LIG42736NM_002312.3AR
LRBA8556NM_001199282.2AR
MEFV2346NM_000243.3AD, AR
MYO5B5547NM_001080467.3AR
NCF21581NM_000433.4AR
NCF41020NM_000631.5AR
NOD23123NM_022162.3AD
OTULIN1066NM_138348.6AR
PIK3CD3135NM_005026.5AR
PIK3R12175NM_181523.3AD, AR
PLCG23798NM_002661.5AD
PTEN1212NM_000314.8AD
RAG13132NM_000448.3AR
RET3345NM_020975.6AD, AR
RTEL13732NM_032957.5AD, AR
SAMD94770NM_001193307.2AD
SKIC23741NM_006929.5AR
SKIC34695NM_014639.4AR
STAT12253NM_007315.4AD, AR
ZAP701860NM_001079.4AR

Infos zur Erkrankung

Synonyme
  • Allelic: Autoimmune lymphoproliferative syndrome, type V (CTLA4)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
  • Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
  • Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
  • Allelic: Epidermolysis bullosa pruriginosa (COL7A1)
  • Allelic: Epidermolysis bullosa, pretibial (COL7A1)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Graft-versus-host disease, protection against (IL10)
  • Allelic: HIV-1, susceptibility to (IL10)
  • Allelic: Hashimoto thyroiditis (CTLA4)
  • Allelic: Hepatitis B virus, susceptibility to (IL10RB)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Medullary thyroid carcinoma (RET)
  • Allelic: Meningioma (PTEN)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
  • Allelic: Multiple endocrine neoplasia IIA (RET)
  • Allelic: Multiple endocrine neoplasia IIB (RET)
  • Allelic: Multiple myeloma, resistance to (LIG4)
  • Allelic: Neutrophilic dermatosis, acute febrile (MEFV)
  • Allelic: Pheochromocytoma (RET)
  • Allelic: Porokeratosis 3, multiple types (MVK)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Rheumatoid arthritis, progression of (IL10)
  • Allelic: Severe combined immunodeficiency due to ADA deficiency (ADA)
  • Allelic: Thrombocytopenia, XL (WAS)
  • Allelic: Thrombocytopenia, XL, intermittent (WAS)
  • Allelic: Toenail dystrophy, isolated (COL7A1)
  • Allelic: Transient bullous of the newborn (COL7A1)
  • Adenosine deaminase deficiency, partial (ADA)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Alpha/beta T-cell lymphopenia, g/d T-cell expansion, severe cytomegalov. inf. + autoimmunity (RAG1)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3(
  • Autoimmune disease, multisystem, infantile-onset, 2 (ZAP70)
  • Autoinflammation, antibody deficiency + immune dysregulation syndrome (PLCG2)
  • Autoinflammation, panniculitis + dermatosis syndrome (OTULIN)
  • Blau syndrome (NOD2)
  • Celiac disease, susceptibility to, 3 (CTLA4)
  • Chronic granulomatous disease 1, AR (NCF1)
  • Chronic granulomatous disease 2, AR (NCF2)
  • Chronic granulomatous disease 3, AR (NCF4)
  • Chronic granulomatous disease 4, AR (CYBA)
  • Chronic granulomatous disease, XL (CYBB)
  • Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
  • Combined immunodeficiency, XL, moderate (IL2RG)
  • Cowden syndrome 1 (PTEN)
  • Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Diarrhea 6 (GUCY2C)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
  • Epidermolysis bullosa dystrophica inversa (COL7A1)
  • Epidermolysis bullosa dystrophica, AD (COL7A1)
  • Epidermolysis bullosa dystrophica, AR (COL7A1)
  • Epidermolysis bullosa dystrophica, Bart type (COl7A1)
  • Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
  • Familial Mediterranean fever, AD (MEFV)
  • Familial Mediterranean fever, AR (MEFV)
  • Familial cold autoinflammatory syndrome 3 (PLCG2)
  • Gastrointestinal defects and immunodeficiency syndrome (TTC7A)
  • Glycogen storage disease IB + Ic (SLC37A4)
  • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
  • Hermansky-Pudlak syndrome 1 (HPS1)
  • Hermansky-Pudlak syndrome 4 (HPS4)
  • Hermansky-Pudlak syndrome 6 (HPS6)
  • Hirschsprung disease, protection against (RET)
  • Hirschsprung disease, susceptibility to, 1 (RET)
  • Hyper-IgD syndrome (MVK)
  • Hyper-IgE recurrent infection syndrome (STAT3)
  • Hyper-IgE recurrent infection syndrome, AR (DOCK8)
  • Immunodeficiency 14 (PIK3CD)
  • Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
  • Immunodeficiency 31B, mycobacterial and viral infections, AR (STAT1)
  • Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
  • Immunodeficiency 33 (IKBKG)
  • Immunodeficiency 34, mycobacteriosis, XL (CYBB)
  • Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
  • Immunodeficiency 48 (ZAP70)
  • Immunodeficiency, XL, with hyper-IgM (CD40LG)
  • Immunodeficiency, common variable, 1 (ICOS)
  • Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Incontinentia pigmenti (IKBKG)
  • Inflammatory bowel disease 1, Crohn disease (NOD2)
  • Inflammatory bowel disease 25, early onset, AR (IL10RB)
  • Inflammatory bowel disease 28, early onset, AR (IL10RA)
  • Inflammatory skin + bowel disease, neonatal, 1 (ADAM17)
  • Intestinal dysmotility syndrome (ANO1)
  • Kindler syndrome (FERMT1)
  • LIG4 syndrome (LIG4)
  • Leukocyte adhesion deficiency (ITGB2)
  • Lhermitte-Duclos syndrome (PTEN)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • Lymphoproliferative syndrome, XL, 2 (XIAP)
  • MIRAGE syndrome (SAMD9)
  • Meconium ileus (GUCY2C)
  • Mevalonic aciduria (MVK)
  • Microvillus inclusion disease (MYO5B)
  • Neutropenia, severe congenital, X (WAS)
  • Omenn syndrome (DCLRE1C, RAG1, RAG2)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Severe combined immunodeficiency, Athabascan type (DCLRE1C)
  • Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
  • Severe combined immunodeficiency, XL (IL2RG)
  • Systemic lupus erythematosus, susceptibility to (CTLA4)
  • Trichohepatoenteric syndrome 1 (TTC37)
  • Trichohepatoenteric syndrome 2 (SKIC2L)
  • Wiskott-Aldrich syndrome (WAS)
  • Yao syndrome (NOD2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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