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ErkrankungKontraktur-Syndrom, lethales kongenitales; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Lethales kongenitales Kontraktur-Syndrom mit 12 bzw. 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
LP0450
Anzahl Gene
20 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,7 kb (Core-/Basis-Gene)
69,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CHRNA11374AD und/oder AR
CHRNB11506AD und/oder AR
CHRND1554AD und/oder AR
CHRNG1554AR
DNM22613AD und/oder AR und/oder SMu
DOK71515AR
ERBB34029AD und/oder AR
GLE12097AR
MUSK2610AR
MYBPC13516AD und/oder AR
PIP5K1C2007AR
RAPSN1239AR
ADCY63507AR
ADGRG63858AR
CNTNAP14155AR
GLDN1670AR
LGI41614AR
SYNE126250AD und/oder AR
ZBTB421269AR
ZMPSTE241428AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • Alias: Arthrogryposis multiplex congenita, lethal
  • Alias: Lethal congenital contracture syndrome
  • Allelic: Centronuclear myopathy 1 (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
  • Allelic: Congenital arthrogryposis with anterior horn cell disease (GLE1)
  • Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
  • Allelic: Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
  • Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Allelic: Myasthenic syndrome, congenital, 10 (DOK7)
  • Allelic: Myasthenic syndrome, congenital, 11, assoc. with acetylcholine receptor deficiency (RAPSN)
  • Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
  • Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
  • Allelic: Myasthenic syndrome, congenital, 2C, assoc. with acetylcholine receptor deficiency (CHRNB1)
  • Allelic: Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
  • Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
  • Allelic: Myasthenic syndrome, congenital, 3C, assoc. with acetylcholine receptor deficiency (CHRND)
  • Allelic: Myasthenic syndrome, congenital, 9, assoc. with acetylcholine receptor deficiency (MUSK)
  • Allelic: Myopathy, congenital, with tremor (MYBPC1)
  • Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
  • Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Arthrogryposis, Perthes disease + upward gaze palsy (NEK9)
  • Arthrogryposis, distal, type 1B (MYBPC1)
  • Escobar syndrome (CHRNG)
  • Fetal akinesia deformation sequence 1 (MUSK)
  • Fetal akinesia deformation sequence 2 (RAPSN)
  • Fetal akinesia deformation sequence 3 (DOK7)
  • Lethal congenital contracture syndrome 1 (GLE1)
  • Lethal congenital contracture syndrome 10 (NEK9)
  • Lethal congenital contracture syndrome 11 (GLDN)
  • Lethal congenital contracture syndrome 2 (ERBB3)
  • Lethal congenital contracture syndrome 3 (PIP5K1C)
  • Lethal congenital contracture syndrome 4 (MYBPC1)
  • Lethal congenital contracture syndrome 5 (DNM2)
  • Lethal congenital contracture syndrome 6 (ZBTB42)
  • Lethal congenital contracture syndrome 7 (CNTNAP1)
  • Lethal congenital contracture syndrome 8 (ADCY6)
  • Lethal congenital contracture syndrome 9 (ADGRG9)
  • Multiple pterygium syndrome, lethal type (CHRNA1, CHRND)
  • Multiple pterygium syndrome, lethal type (CHRNG)
  • Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
  • Restrictive dermopathy, lethal (ZMPSTE24)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatik und klinische Interpretation

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