IllnessEsophagus atresia/tracheo-esophageal fistulas, differential diagnosis

Summary

Short information

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

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

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
MYCN	1395	164840	NM_005378.6	AD
SOX2	954	184429	NM_003106.4	AD
BRCA2	10257	600185	NM_000059.4	n.k.
BRIP1	3750	605882	NM_032043.3	AR
CHD7	8994	608892	NM_017780.4	AD
FANCA	4368	607139	NM_000135.4	AR
FANCB	2580	300515	NM_001018113.3	XL
FANCC	1677	613899	NM_000136.3	AR
FANCE	1611	613976	NM_021922.3	AR
FANCF	1125	613897	NM_022725.4	AR
FANCI	3987	611360	NM_001113378.2	AR

Informations about the disease

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