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ErkrankungAnalatresie/anorektale Fehlbildungen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Analatresie und anorektale Fehlbildungen mit 3 bzw. 15 kuratierten Genen je nach klinischer Verdachtsdiagnose

ID
AP3579
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,9 kb (Core-/Basis-Gene)
37,9 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
CCNQ685XLD
SALL13975AD
SALL43162AD
CDX1798AD
DACT12515XLD
EDNRB1329AD und/oder AR und/oder Sus
FANCB2580XLR und/oder Sus
FOXF11140AD
GLI34743AD
MED126534XLR
MID12004XLR
RECQL43628AR
RET3345AD und/oder Dig und/oder Sus
ZIC31404XLR

Infos zur Erkrankung

Klinischer Kommentar

siehe Akro-renales-okuläres Syndrom, Duane, IVIC, Okihiro, Townes-Brook Syndrome; VACTERL-Gene als DD, siehe auch PP0016; anorektale Fehlbildung angefügt

 

Synonyme
  • Alias: Anal atresia
  • Allelic: Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1)
  • Allelic: Baller-Gerold syndrome [craniosynostosis, radial aplasia] (RECQL4)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
  • Allelic: Fanconi anemia, complementation group B (FANCB)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: Heterotaxy, visceral, 1, XL (ZIC3)
  • Allelic: Hirschsprung disease, protection against (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 2 (EDVRB)
  • Allelic: Hypothalamic hamartomas, somatic (GLI3)
  • Allelic: Intellectual developm. disorder + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Allelic: Lujan-Fryns syndrome [mental retardation, XL; marfanoid habitus] (MED12)
  • Allelic: Medullary thyroid carcinoma (RET)
  • Allelic: Mental retardation, with/-out nystagmus (CASK)
  • Allelic: Multiple endocrine neoplasia IIA + IIB (RET)
  • Allelic: Ohdo syndrome, XL [blepharophimosis, mental retardation] (MED12)
  • Allelic: Pallister-Hall syndrome (GLI3)
  • Allelic: Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
  • Allelic: Pheochromocytoma (RET)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: RAPADILINO syndrome [radial + patellar aplasia/hypoplasia] (RECQL4)
  • Allelic: Rothmund-Thomson syndrome, type 2 [poikiloderma, cong. bone defects, osteosarc.] (RECQL4)
  • Allelic: Waardenburg syndrome, type 4A (EDNRB)
  • ABCD syndrome [Albinism, Black lock, Cell migration disorder of gut, Deafness] (EDNRB)
  • Anorectal malformation (CASK, CDX1, CDX2, FANCB, FOXF1, GLI3, MED12, MNX1, MYCN, MYH14, RET, ZIC3)
  • Currarino syndrome [part. sacral agenesis, presacral mass, anorectal malformation] (MNX1)
  • Duane-radial ray [Okihiro; acro-renal-ocular] syndrome (SALL4)
  • FG syndrome 4 (CASK)
  • Feingold syndrome 1 (MYCN)
  • IVIC [upper limb anomalies, extraoc. motor disturb., cong. bilateral hearing loss] syndrome (SALL4)
  • Opitz GBBB syndrome, type I [hypertelorism, esophageal abnormality, hypospadias] (MID1)
  • Opitz-Kaveggia [FG] syndrome [ment. retard., macrocephal, imperfor. anus, corp. call. agen.] (MED12)
  • Pallister-Hall syndrome (GLI3)
  • STAR syndrome; toe Syndactyly, Telecanthus, Anogenital + Renal malformations (CCNQ)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Townes-Brocks syndrome 1 (SALL1)
  • Townes-Brocks syndrome 2 (DACT1)
  • VACTERL association with hydrocephalus (FANCB)
  • VACTERL association, XL (ZIC3)
  • VATER/VACTERL assoc., Alveolar capillary dysplasia + misalignment of pulmonary veins (FOXF1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig und/oder Sus
  • AR
  • XLD
  • XLR
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D12.9

Bioinformatik und klinische Interpretation

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