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ErkrankungCutis laxa, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Cutis laxa, Differentialdiagnose, mit zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP9251
Anzahl Gene
16 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,1 kb (Core-/Basis-Gene)
31,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ATP6V0A22571AR
EFEMP21332AR
FBLN51347AD und/oder AR
LTBP44763AR
ALDH18A12388AD und/oder AR
ATP7A4503XLR
ELN2175AD
GORAB1185AR
PYCR1960AR
SLC2A101626AR
SMAD21404AD
SMAD31278AD
TGFB21245AD
TGFB31239AD
TGFBR11512AD
TGFBR21704AD

Infos zur Erkrankung

Synonyme
  • Alias: AR Cutis Laxa Type 1B
  • Alias: Cutis laxa, AR, Lungenemphysem Typ
  • Alias: Cutis laxa, AR, mit schwerer systemischer Beteiligung
  • Alias: EFEMP2-Related Cutis Laxa
  • Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Developmental + epileptic encephalopathy 9 (ATP6V1A)
  • Allelic: Doyne honeycomb degeneration of retina (EFEMP1)
  • Allelic: Esophageal cancer, somatic (TGFBR2)
  • Allelic: Infantile liver failure syndrome 2 (NBAS)
  • Allelic: Macular degeneration, age-related, 3 (FBLN5)
  • Allelic: Menkes disease (ATP7A)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
  • Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
  • Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
  • Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Allelic: Supravalvar aortic stenosis (ELN)
  • Aortic aneurysm, familial thoracic 10 (LOX)
  • Arterial tortuosity syndrome (SLC2A10)
  • Connective tissue disorder [panelapp Ehlers-Danlos panel] (EFEMP1)
  • Cutis laxa, AD (ELN)
  • Cutis laxa, AD 2 (FBLN5)
  • Cutis laxa, AD 3 (ALDH18A1)
  • Cutis laxa, AR, type IA (FBLN5)
  • Cutis laxa, AR, type IB (EFEMP2)
  • Cutis laxa, AR, type IC (LTBP4)
  • Cutis laxa, AR, type IIA (ATP6V0A2)
  • Cutis laxa, AR, type IIB (PYCR1)
  • Cutis laxa, AR, type IIC (ATP6V1E1)
  • Cutis laxa, AR, type IID (ATP6V1A)
  • Cutis laxa, AR, type IIIA (ALDH18A1)
  • Cutis laxa, AR, type IIIB (PYCR1)
  • Geroderma osteodysplasticum (GORAB)
  • Lenz-Majewski hyperostotic dwarfism (PTDSS1)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 4 (TGFB2)
  • Loeys-Dietz syndrome 5 (TGFB3)
  • Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
  • Macrocephaly, alopecia, cutis laxa + scoliosis (RIN2)
  • Occipital horn syndrome (ATP7A)
  • Short stature, optic nerve atrophy + Pelger-Huet anomaly (NBAS)
  • Wrinkly skin syndrome (ATP6V0A2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q82.8

Bioinformatik und klinische Interpretation

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