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ErkrankungPeroxisomen-Biogenese-Störungen, großes panel

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Peroxisomen-Biogenese-Störungen mit 35 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0509
Anzahl Gene
34 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
52,0 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCD12238XLR
ACBD51473AR
ACOX11869AR
AGK1269AR
AGPS1977AR
AGXT1179AR
AMACR1185AR
CAT1584AD und/oder AR
DNM1L2211AD und/oder AR
DYM2010AR
EBP693XL
FAR11548AR
GNPAT2043AR
GRHPR987AR
HOGA1984AR
HSD17B42211AR
NSDHL1122XL
PEX13852AR
PEX101041AR
PEX11B780AR
PEX121080AR
PEX131212AR
PEX141134AR
PEX161011AR
PEX19900AR
PEX2918AR
PEX26918AR
PEX31122AR
PEX51920AR
PEX62943AD und/oder AR
PEX7972AR
PHYH1017AR
SCP21644AR
TRIM372895AR und/oder Sus

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von AR vererbten Störungen, die die Bildung funktioneller Peroxisomen beeinträchtigen mit sensorineuraler Schwerhörigkeit, Pigmentdegeneration der Netzhaut, multipler Organdysfunktion, psychomotorischer Beeinträchtigung, umfasst die phänotypischen Varianten Zellweger-Syndrom, neonatale Adrenoleukodystrophie, infantile Refsum-Krankheit

 

Synonyme
  • Alias: Infantile Refsum disease
  • Alias: Neonatal adrenoleukodystrophy
  • Alias: Peroxisomal biogenesis disturbances
  • Alias: Peroxisome biogenesis disorder spectrum
  • Allelic: Cataract 38, AR (AGK)
  • Allelic: MEND syndrome (EBP)
  • Allelic: Mitchell syndrome (ACOX1)
  • Allelic: Optic atrophy 5 (DNM1L)
  • Allelic: Perrault syndrome 1 (HSD17B4)
  • Acatalasemia (CAT)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1) D-bifunctional protein deficiency (HSD17B4)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Bile acid synthesis defect, congenital, 4 (AMACR)
  • CHILD syndrome (NSDHL)
  • CK syndrome (NSDHL)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia punctata, XLR (ARSE)
  • Chondrodysplasia punctata, XLR (ARSE)
  • Dyggve-Melchior-Clausen disease (DYM)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
  • Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
  • Hyperoxaluria, primary, type 1 (AGXT)
  • Hyperoxaluria, primary, type II (GRHPR)
  • Hyperoxaluria, primary, type III (HOGA1)
  • Krabbe disease (GALC)
  • Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
  • Metachromatic leukodystrophy (ARSA)
  • Mulibrey nanism (TRIM37)
  • Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
  • Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
  • Peroxisome biogenesis disorder 10B (PEX3)
  • Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
  • Peroxisome biogenesis disorder 11B (PEX13)
  • Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
  • Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
  • Peroxisome biogenesis disorder 14B (PEX11B)
  • Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
  • Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
  • Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
  • Peroxisome biogenesis disorder 2B (PEX5)
  • Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
  • Peroxisome biogenesis disorder 3B (PEX12)
  • Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
  • Peroxisome biogenesis disorder 5B (PEX2)
  • Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
  • Peroxisome biogenesis disorder 7B (PEX26)
  • Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
  • Peroxisome biogenesis disorder 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Refsum disease (PHYH)
  • Retinal dystrophy with leukodystrophy (ACBD5)
  • Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
  • Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
  • Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Sengers syndrome (AGK)
  • Smith-McCort dysplasia (DYM)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AR
  • AR und/oder Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E88.9

Bioinformatik und klinische Interpretation

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