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ErkrankungChoanalatresie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Choanalatresie mit 10 bzw. 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP3210
Anzahl Gene
16 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
31,4 kb (Core-/Basis-Gene)
46,3 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
CHD78994AD und/oder Impr
CTNND12907AD
EFTUD22919AD
FAM20C1755AR
FGFR22466AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
FOXE11122AD und/oder AR
SPINT2588AR
TXNL4A429AR
USP9X7713XLD und/oder XLR
POLR1C1041AR
POLR1D402AD und/oder AR
PTPN143564AR
SALL43162AD
SEMA3E2328AD
TCOF14467AD

Infos zur Erkrankung

Klinischer Kommentar

Kongenitale Anomalie der hinteren Nasenatmungswege mit Obstruktion (unilateral/bilateral), klinische Manifestationen von akuter Atemnot bis zu chronischer Nasenobstruktion

 

Synonyme
  • Alias: Atresia choanae, Choanal stenosis
  • Allelic: Achondroplasia (FGFR3)
  • Allelic: Bent bone [dysplasia] syndrome (FGFR2)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Gastric cancer, somatic (FGFR2)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Hypothyroidism, thyroidal/athyroidal, spiky hair, cleft palate (FOXE1)
  • Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: SADDAN (FGFR3)
  • Allelic: Severe achondroplasia with developmental delay and acanthosis nigricans, SADDAN (FGFR3)
  • Allelic: Spermatocytic seminoma, somatic (FOXE1)
  • Allelic: Thanatophoric dysplasia, type I, II (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
  • Allelic: Thyroid cancer, nonmedullary, 4 (FGFR3)
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Apert syndrome (FGFR2)
  • Bamforth-Lazarus syndrome (FOXE1)
  • Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Blepharocheilodontic syndrome 2 (CTNND1)
  • Burn-McKeown syndrome: Oculo oto facial dysplasia (TXNL4A)
  • CHARGE syndrome (CHD7, SEMA3E)
  • Camptodactyly, tall stature, hearing loss syndrome, CATSHLS (FGFR3)
  • Choanal atresia and lymphedema (PTPN14)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniosynostosis, nonspecific (FGFR2)
  • Crouzon syndrome (FGFR2)
  • Crouzon syndrome with acanthosis nigricans (FGFR3`)
  • Duane-radial ray [Okihiro] syndrome (SALL4)
  • IVIC syndrome (SALL4)
  • Jackson-Weiss syndrome (FGFR2)
  • LADD syndrome (FGFR3)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Mental retardation, X-linked 99, syndromic, female-restricted (USPE9X)
  • Muenke syndrome (FGFR3)
  • Pfeiffer syndrome (FGFR2)
  • Raine syndrome (FAM20C)
  • Saethre-Chotzen syndrome (FGFR2)
  • Scaphocephaly, maxillary retrusion, mental retardation (FGFR2)
  • Treacher Collins syndrome 1 (TCOF1)
  • Treacher Collins syndrome 2 (POLR1D)
  • Treacher Collins syndrome 3 (POLR1C)
  • Treacher-Collins syndrome 4 (POLR1B)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder Impr
  • AD und/oder Sus
  • AR
  • XLD und/oder XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q30.0

Bioinformatik und klinische Interpretation

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