©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessEsophagus atresia/tracheo-esophageal fistulas, differential diagnosis

Request form illness
Order shipping materials

Summary

Short information

Comprehensive differential diagnostic panel for Esophagus atresia/tracheo-esophageal fistulas comprising altogether 13 curated genes according to the clinical signs

ID
ÖP9238
Number of genes
11 Accredited laboratory test
Examined sequence length
2,4 kb (Core-/Core-canditate-Genes)
40,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MYCN1395NM_005378.6AD
SOX2954NM_003106.4AD
BRCA210257NM_000059.4n.k.
BRIP13750NM_032043.3AR
CHD78994NM_017780.4AD
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XL
FANCC1677NM_000136.3AR
FANCE1611NM_021922.3AR
FANCF1125NM_022725.4AR
FANCI3987NM_001113378.2AR

Informations about the disease

Clinical Comment

Die Ösophagusatresie (EA) mit oder ohne tracheoösophageale Fistel (TEF) ist ein angeborener Entwicklungsdefekt des Gastrointestinaltrakts mit einer Prävalenz von fast 2,3 pro 10.000 Lebendgeburten. Mehrere Studien in der Literatur haben eine Vielzahl genetischer Mechanismen wie Aneuploidien (Trisomie 18), chromosomale Mikrodeletions- oder Mikroduplikationssyndrome (22q11.2-Deletionssyndrom) und eine Vielzahl von Einzelgenstörungen (darunter Fanconi-Anämie, Feingold-Syndrom und CHARGE-Syndrom) identifiziert, die zur Entwicklung von EA/TEF führen.

Literatur:

https://pmc.ncbi.nlm.nih.gov/articles/PMC10005847/

 

Synonyms
  • Alias: AEG syndrome (SOX2)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
  • Anophthalmia-Esophageal-Genital syndrome (SOX2)
  • CHARGE syndrome (CHD7)
  • 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 I (FANCI)
  • Fanconi anemia, complementation group J (BRIP1)
  • Feingold syndrome 1 (MYCN)
  • Microphthalmia, syndromic 3 (SOX2)
  • Opitz GBBB syndrome (MID1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined