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Klinische FragestellungAnalatresie/anorektale Fehlbildungen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Analatresie und anorektale Fehlbildungen mit 3 "core"-/"core candidate"-Genen bzw. insgesamt 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
AP3579
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,9 kb (Core-/Core-canditate-Gene)
37,9 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
CCNQ685NM_001130997.3XL
SALL13975NM_002968.3AD
SALL43162NM_020436.5AD
CDX1798NM_001804.3AD
DACT12515NM_001079520.2XL
EDNRB1329NM_000115.5AD, AR, Sus
FANCB2580NM_001018113.3XLR
FOXF11140NM_001451.3AD
GLI34743NM_000168.6AD
MED126534NM_005120.3XL
MID12004NM_000381.4XLR
RECQL43628NM_004260.4AR
RET3345NM_020975.6n.k.
ZIC31404NM_003413.4XLR

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: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • 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)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Currarino syndrome [part. sacral agenesis, presacral mass, anorectal malformation] (MNX1)
  • Duane-radial ray [Okihiro; acro-renal-ocular] syndrome (SALL4)
  • FG syndrome 4 (CASK)
  • Fanconi anemia, complementation group C (FANCC)
  • Feingold syndrome 1 (MYCN)
  • Helsmoortel-van der Aa syndrome (ADNP)
  • IVIC [upper limb anomalies, extraoc. motor disturb., cong. bilateral hearing loss] syndrome (SALL4)
  • Intellectual developmental disorder, AD 70 (SETD2)
  • Kabuki syndrome 2 (KDM6A)
  • Luscan-Lumish syndrome (SETD2)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • 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)
  • Rabin-Pappas syndrome (SETD2)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
  • 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
  • AR
  • Sus
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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