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ErkrankungThorax-Dystrophien, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Thorax-Dystrophien mit 23 bzw. zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP2297
Anzahl Gene
34 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
63,5 kb (Core-/Basis-Gene)
105,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
C2CD35892AR
CEP1202961AR
CSPP13666AR
DYNC2H112945AR und/oder Dig
DYNC2I13201AR
EVC2979AD und/oder AR
EVC23927AD und/oder AR
IFT1404389AR
IFT1725250AR
IFT43642AR
IFT802334AR
NEK13777AD und/oder AR und/oder Dig und/oder Sus
TTC21B3951AD und/oder AR
WDR194029AR
WDR353546AR
CFAP4101507AR
CILK11899AR
DDX591860AR
DYNC2I21611AR
DYNC2LI11438AR
DYNLT2B434AR
FGFR32421AD und/oder AR und/oder SMu
HYLS1900AR
IFT1223879AR
IFT521327AR
IFT812158AR
INTU2829AR
KIAA05865005AR
KIAA07532989AR
KIF74032AR und/oder Dig
OFD13039XL
TMEM107514AR
TRAF3IP11878AR
TRPV62313AR

Infos zur Erkrankung

Synonyme
  • Alias: Asphyxiierende Thoraxdystrophie (des Neugeborenen)
  • Alias: Jeune Asphyxiyting Thorax Dystrophy, JATD
  • Alias: Jeune Syndrom
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
  • Allelic: Bladder cancer, somatic; Cervical cancer, somatic; Colorectal cancer, somatic (FGFR3)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: Joubert syndrome 23 (KIAA0586)
  • Allelic: Joubert syndrome 29 (TMEM107)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Meckel syndrome 13 (TMEM107)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Naevus, epidermal, somatic (FGFR3)
  • Allelic: Nephronophthisis 12 (TTC21B)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Allelic: Retinal dystrophy with macular staphyloma (CFAP410 syn. C21orf2)
  • Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Retinitis pigmentosa 81 (IFT43)
  • Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
  • Achondroplasia, homozygous (FGFR3)
  • Acrocallosal syndrome (KIF7)
  • Al-Gazali-Bakalinova syndrome (KIF7)
  • Alias: Asphyxiierende Thoraxdystrophie des Neugeborenen
  • Allelic: Bardet-Biedl syndrome 22 (IFT74)
  • Allelic: Spermatogenic failure 58 (IFT74)
  • Cardioacrofacial dysplasia 1 (PRKACA)
  • Cranioectodermal dysplasia 1 (IFT122)
  • Cranioectodermal dysplasia 2 (WDR35)
  • Cranioectodermal dysplasia 3 (IFT43)
  • Cranioectodermal dysplasia 4 (WDR19)
  • Ellis-van Creveld syndrome (EVC, EVC2)
  • Endocrine-cerebroosteodysplasia (CILK1)
  • Hydrolethalus syndrome (HYLS1)
  • Hydrolethalus syndrome 2 (KIF7)
  • Hyperparathyroidism, transient neonatal (TRPV6)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 40 (IFT74)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome V (DDX59)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Orofaciodigital syndrome XV (KIAA9753)
  • Orofaciodigital syndrome XVI (TMEM107)
  • Orofaciodigital syndrome XVII (INTU)
  • SADDAN (FGFR3)
  • Senior-Loken syndrome 8 (WDR19)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2 syn. WDR34)
  • Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
  • Short-rib thoracic dysplasia 16 with/-out polydactyly (IFT52)
  • Short-rib thoracic dysplasia 17 with/-out polydactyly (DYNLT2B syn. TCTEX1D2)
  • Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
  • Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
  • Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
  • Short-rib thoracic dysplasia 20 with polydactyly (INTU)
  • Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
  • Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
  • Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
  • Short-rib thoracic dysplasia 8 with/out polydactyly (WDR60)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly [Mainzer-Saldino syndrome] (IFT140)
  • Spondylometaphyseal dysplasia, axial (CFAP410 syn. C21orf2)
  • Spondylometaphyseal dysplasia, axial (CFAP410)
  • Weyers acrofacial dysostosis (EVC, EVC2)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder SMu
  • AR
  • AR und/oder Dig
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q67.8

Bioinformatik und klinische Interpretation

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